Canonical Allele Identifier: PA915964662
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 285157
ClinVar RCV Id: RCV000278497 RCV000664619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Gly483Arg
CA8815349
NM_001079804.3:c.1447G>A
CA401366800
NM_001079804.3:c.1447G>C