Canonical Allele Identifier: PA1139670396
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 847865
ClinVar RCV Id: RCV001051500
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Cys108Ser
CA401360738
NM_001079804.3:c.322T>A
CA401360745
NM_001079804.3:c.323G>C