Allele Registry

Canonical Allele Identifier: PA2826943466

Gene: PCYT1A HGNC NCBI

ClinVar RCV:

RCV000087314

RCV000622339

RCV002515781

ClinVar Variation:

101057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001299602.1:p.Ala99Val	CA214461 NM_001312673.2:c.296C>T