Canonical Allele Identifier: PA2580510566
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1746223
ClinVar Variation Id: 2421360

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