Canonical Allele Identifier: PA915964796
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 558604
ClinVar RCV Id: RCV000674901 RCV001507903
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Arg660Cys
CA8815561
NM_001079804.3:c.1978C>T