Canonical Allele Identifier: PA2825442023
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2066523
ClinVar RCV Id: RCV002966164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Trp330Cys
CA401364494
NM_001079804.3:c.990G>C
CA401364495
NM_001079804.3:c.990G>T