Canonical Allele Identifier: PA2580102245
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124579
ClinVar RCV Id: RCV003057230

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Asn312Lys
CA390304992
NM_000021.3:c.936T>G
CA390304994
NM_000021.3:c.936T>A