Canonical Allele Identifier: PA915964475
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 197633
ClinVar RCV Id: RCV000178719 RCV000545994 RCV001704853
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ser306Leu
CA202989
NM_001079804.3:c.917C>T