Canonical Allele Identifier: PA1139670808
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 956209
ClinVar RCV Id: RCV001228970 RCV001751444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Leu291Phe
CA8815079
NM_001079804.3:c.871C>T