Allele Registry

Canonical Allele Identifier: PA2825929327

Gene: P3H1 HGNC NCBI

ClinVar Allele:

414799

ClinVar RCV:

RCV000489750

RCV000538652

RCV001097772

ClinVar Variation:

426382

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139761.1:p.Gly502Arg	CA801813 NM_001146289.2:c.1504G>C