Allele Registry

Canonical Allele Identifier: PA099635

Gene: PCYT1A HGNC NCBI

ClinVar RCV:

RCV000087321

ClinVar Variation:

101064

HGVS (amino-acid)	Matching Registered Transcripts
NP_005008.2:p.Phe191Leu	CA214469 NM_005017.4:c.571T>C CA355611640 NM_005017.4:c.573T>G CA355611642 NM_005017.4:c.573T>A