Canonical Allele Identifier: PA1139747095
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 640432
ClinVar RCV Id: RCV000793456 RCV001830695 RCV002536964 RCV003479219
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_620279.1:p.Ser59dup
CA9043790
NM_138924.3:c.175_177dup