Allele Registry

Canonical Allele Identifier: PA099606

Gene: PCYT1A HGNC NCBI

ClinVar RCV:

RCV000087314

RCV000622339

RCV002515781

ClinVar Variation:

101057

HGVS (amino-acid)	Matching Registered Transcripts
NP_005008.2:p.Ala99Val	CA214461 NM_005017.4:c.296C>T