Canonical Allele Identifier: PA1139671647
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 972747
ClinVar RCV Id: RCV001248866 RCV001876297 RCV003142223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Arg594His
CA8815477
NM_001079804.3:c.1781G>A