Canonical Allele Identifier: PA915964491
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 188797
ClinVar RCV Id: RCV000169127 RCV000723463
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Gly309Arg
CA273972
NM_001079804.3:c.925G>A
CA401364061
NM_001079804.3:c.925G>C
CA2838194639
NM_001079804.3:c.921_925delinsTCACA