Canonical Allele Identifier: PA2573064935
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1314872
ClinVar RCV Id: RCV001765913 RCV002540574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Gln386His
CA401365067
NM_001079804.3:c.1158G>C
CA401365068
NM_001079804.3:c.1158G>T