Canonical Allele Identifier: PA645482297
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 431959
ClinVar RCV Id: RCV000497566 RCV000695868 RCV002305494 RCV002318603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000147.1:p.Cys169_Ser173dup
CA9043617
NM_000156.6:c.507_521dup