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) Matching Registered Transcripts
ENSP00000452477.2:p.Val85Leu
CA224987
ENST00000553599.6:c.253G>T
CA390303309
ENST00000553599.6:c.253G>C