This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000452477.1:p.Leu81Pro
ENST00000553599.5:c.[242T>C;245T=]

ENST00000553599.5:c.[242T>C;246T>C]

ENST00000553599.5:c.[242T>C;247G=]

ENST00000553599.5:c.[242T>C;249C>A]

ENST00000553599.5:c.[242T>C;249C=]

ENST00000553599.5:c.[242T>C;249C>G]

ENST00000553599.5:c.[242T>C;249C>T]

ENST00000553599.5:c.[242T>C;250C=]

ENST00000553599.5:c.[242T>C;251C=]

ENST00000553599.5:c.[242T>C;252T>A]

ENST00000553599.5:c.[242T>C;252T>C]

ENST00000553599.5:c.[242T>C;252T>G]

ENST00000553599.5:c.[242T>C;252T=]

ENST00000553599.5:c.[242T>C;253G=]

ENST00000553599.5:c.[242T>C;255G>A]

ENST00000553599.5:c.[242T>C;255G>C]

ENST00000553599.5:c.[242T>C;255G>T]

ENST00000553599.5:c.[242T>C;257C=]

ENST00000553599.5:c.[242T>C;258T>A]

ENST00000553599.5:c.[242T>C;258T>C]

ENST00000553599.5:c.[242T>C;258T>G]

ENST00000553599.5:c.[242T>C;259C=]

ENST00000553599.5:c.[242T>C;259C>T;261C>A...

ENST00000553599.5:c.[242T>C;259C>T;261C>G...

ENST00000553599.5:c.[242T>C;261C>A]

ENST00000553599.5:c.[242T>C;261C>G]

ENST00000553599.5:c.[242T>C;261C>T]

ENST00000553599.5:c.[242T>C;263G=]

ENST00000553599.5:c.[242T>C;264C>T]

ENST00000553599.5:c.[242T>C;265A=]

ENST00000553599.5:c.[242T>C;267G=]

ENST00000553599.5:c.[242T>C;268G=]

ENST00000553599.5:c.[242T>C;270G>A]

ENST00000553599.5:c.[242T>C;270G>C]

ENST00000553599.5:c.[242T>C;270G>T]