Canonical Allele Identifier: PA1139670961
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 966297
ClinVar RCV Id: RCV001240945 RCV003132328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ser379Tyr
CA294892232
NM_001079804.3:c.1136C>A