Canonical Allele Identifier: PA2580510566
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1746223
ClinVar RCV Id: RCV002340852 RCV003418468
ClinVar Variation Id: 2421360
ClinVar RCV Id: RCV003113020 RCV003482169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_620279.1:p.Trp174Cys
CA402994362
NM_138924.3:c.522G>T
CA402994365
NM_138924.3:c.522G>C