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
ENSP00000514939.1:p.Leu377Phe
CA390306235
ENST00000700312.1:c.1131A>C
CA390306236
ENST00000700312.1:c.1131A>T