Canonical Allele Identifier: PA113215
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 4036
ClinVar RCV Id: RCV000004251 RCV000578430 RCV000728952
ClinVar Variation Id: 1324438
ClinVar RCV Id: RCV001781143
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Gly293Arg
CA116622
NM_000152.5:c.877G>A
CA401363876
NM_000152.5:c.877G>C