Canonical Allele Identifier: PA2573159736
Gene: PSEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1450587
ClinVar RCV Id: RCV002014803
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000012.1:p.Arg377Trp
CA390305683
NM_000021.3:c.1129A>T