Canonical Allele Identifier: PA891858523
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 582572
ClinVar RCV Id: RCV000706678 RCV001272269 RCV002343573 RCV001613434
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_620279.1:p.Arg192Cys
CA9043611
NM_138924.3:c.574C>T