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
ENSP00000452128.1:p.[Ile79_Val83delinsCysAspHisAlaLeuCys;Val85_Val92delinsCysAspSerLeuHisGlyGlyGly]
CA2575570840
ENST00000556533.5:c.230_233dup