Canonical Allele Identifier: PA915964384
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 196222
ClinVar RCV Id: RCV000194005 RCV000542661 RCV000724048 RCV002362904
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Val230Met
CA207869
NM_001079804.3:c.688G>A