Canonical Allele Identifier: PA2825068541
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1746223
ClinVar Variation Id: 2421360

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000147.1:p.Trp174Cys
CA402994362
NM_000156.6:c.522G>T
CA402994365
NM_000156.6:c.522G>C