Allele Registry

Canonical Allele Identifier: PA240597

Gene: P3H1 HGNC NCBI

ClinVar RCV:

RCV000724099

RCV001078667

RCV001097676

RCV003917620

ClinVar Variation:

194557

HGVS (amino-acid)	Matching Registered Transcripts
NP_071751.3:p.Pro718Ala	CA240595 NM_022356.4:c.2152C>G