Allele Registry

Canonical Allele Identifier: PA314829

Gene: GAMT HGNC NCBI

ClinVar RCV:

RCV000553174

RCV000725402

RCV001833116

ClinVar Variation:

205592

HGVS (amino-acid)	Matching Registered Transcripts
NP_000147.1:p.Pro217Leu	CA314828 NM_000156.6:c.650C>T