Canonical Allele Identifier: PA113658
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1067574
ClinVar RCV Id: RCV001378875 RCV001780289
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro482Arg
CA401366794
NM_000152.5:c.1445C>G