Canonical Allele Identifier: PA658801233
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 498074
ClinVar RCV Id: RCV000596844 RCV002483587
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg154Cys
CA8814876
NM_000152.5:c.460C>T