Canonical Allele Identifier: PA145787
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 92486
ClinVar RCV Id: RCV000078183 RCV000275148 RCV000675217 RCV002354274
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.His199Arg
CA145785
NM_000152.5:c.596A>G