Allele Registry

Canonical Allele Identifier: PA2825929007

Gene: P3H1 HGNC NCBI

ClinVar Allele:

515997

ClinVar RCV:

RCV000645496

RCV001097864

RCV001731837

RCV002279466

ClinVar Variation:

536820

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139761.1:p.Glu27Asp	CA802238 NM_001146289.2:c.81G>C CA339964167 NM_001146289.2:c.81G>T