Canonical Allele Identifier: PA915964149
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456382
ClinVar RCV Id: RCV000548222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Glu50Lys
CA401360339
NM_001079804.3:c.148G>A