Canonical Allele Identifier: PA1139671273
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 982297
ClinVar RCV Id: RCV001261923 RCV001780211
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Pro482Leu
CA401366796
NM_001079804.3:c.1445C>T