Canonical Allele Identifier: PA1139671468
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 858091
ClinVar RCV Id: RCV001063896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Asn536Lys
CA401367306
NM_001079804.3:c.1608T>A
CA401367307
NM_001079804.3:c.1608T>G