Canonical Allele Identifier: PA1139671052
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 862210
ClinVar RCV Id: RCV001068891 RCV002339343 RCV003490056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Leu398Met
CA8815198
NM_001079804.3:c.1192C>A