Allele Registry

Canonical Allele Identifier: PA645482292

Gene: GAMT HGNC NCBI

ClinVar RCV:

RCV000353046

RCV001726120

RCV001850747

ClinVar Variation:

328347

HGVS (amino-acid)	Matching Registered Transcripts
NP_000147.1:p.Ser140Leu	CA9043666 NM_000156.6:c.419C>T