Canonical Allele Identifier: PA2825460125
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 526537
ClinVar RCV Id: RCV000631087 RCV003129951
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Arg178Cys
CA8814888
NM_001079803.3:c.532C>T