Canonical Allele Identifier: PA224964
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8847
ClinVar RCV Id: RCV000009395 RCV000084269 RCV000172102
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000438.2:p.Asp439Ala
CA224963
NM_000447.3:c.1316A>C