Canonical Allele Identifier: PA2825441848
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1763158
ClinVar RCV Id: RCV002434818
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Trp279Cys
CA401363642
NM_001079804.3:c.837G>T
CA401363644
NM_001079804.3:c.837G>C