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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000452477.1:p.Val83Phe
ENST00000553599.5:c.[247G>T;250C=]

ENST00000553599.5:c.[247G>T;251C=]

ENST00000553599.5:c.[247G>T;252T>A]

ENST00000553599.5:c.[247G>T;252T>C]

ENST00000553599.5:c.[247G>T;252T>G]

ENST00000553599.5:c.[247G>T;252T=]

ENST00000553599.5:c.[247G>T;253G=]

ENST00000553599.5:c.[247G>T;255G>A]

ENST00000553599.5:c.[247G>T;255G>C]

ENST00000553599.5:c.[247G>T;255G>T]

ENST00000553599.5:c.[247G>T;257C=]

ENST00000553599.5:c.[247G>T;258T>A]

ENST00000553599.5:c.[247G>T;258T>C]

ENST00000553599.5:c.[247G>T;258T>G]

ENST00000553599.5:c.[247G>T;259C=]

ENST00000553599.5:c.[247G>T;259C>T;261C>A...

ENST00000553599.5:c.[247G>T;259C>T;261C>G...

ENST00000553599.5:c.[247G>T;261C>A]

ENST00000553599.5:c.[247G>T;261C>G]

ENST00000553599.5:c.[247G>T;261C>T]

ENST00000553599.5:c.[247G>T;263G=]

ENST00000553599.5:c.[247G>T;264C>T]

ENST00000553599.5:c.[247G>T;265A=]

ENST00000553599.5:c.[247G>T;267G=]

ENST00000553599.5:c.[247G>T;268G=]

ENST00000553599.5:c.[247G>T;270G>A]

ENST00000553599.5:c.[247G>T;270G>C]

ENST00000553599.5:c.[247G>T;270G>T]