Canonical Allele Identifier: PA1139671448
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 972746
ClinVar RCV Id: RCV001248865 RCV001780189
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Pro522Ser
CA294895008
NM_001079804.3:c.1564C>T