Canonical Allele Identifier: PA207871
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_000143.2:p.Val230Met
CA207869
NM_000152.5:c.688G>A