Allele Registry

Canonical Allele Identifier: PA2826943482

Gene: PCYT1A HGNC NCBI

ClinVar RCV:

RCV000087320

ClinVar Variation:

101063

HGVS (amino-acid)	Matching Registered Transcripts
NP_001299602.1:p.Glu129Lys	CA214468 NM_001312673.2:c.385G>A