Canonical Allele Identifier: PA1139671288
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 960182
ClinVar RCV Id: RCV001233657 RCV001507902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Asp513Asn
CA8815361
NM_001079804.3:c.1537G>A