Allele Registry

Canonical Allele Identifier: PA099627

Gene: PCYT1A HGNC NCBI

ClinVar RCV:

RCV000087320

ClinVar Variation:

101063

HGVS (amino-acid)	Matching Registered Transcripts
NP_005008.2:p.Glu129Lys	CA214468 NM_005017.4:c.385G>A