Canonical Allele Identifier: PA915964664
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 379593
ClinVar RCV Id: RCV000443985 RCV000666526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Pro493Leu
CA16608675
NM_001079804.3:c.1478C>T