Canonical Allele Identifier: PA915964825
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 189040
ClinVar RCV Id: RCV000169431 RCV001090261
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Arg702Cys
CA274304
NM_001079804.3:c.2104C>T