Canonical Allele Identifier: PA658801317
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 499293
ClinVar RCV Id: RCV000598534 RCV000726989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Trp746Arg
CA401324768
NM_000152.5:c.2236T>A
CA401324769
NM_000152.5:c.2236T>C