Allele Registry

Canonical Allele Identifier: PA2826323520

Gene: P3H1 HGNC NCBI

ClinVar RCV:

RCV000610522

RCV000999909

RCV001096112

RCV001573726

RCV002279355

ClinVar Variation:

468985

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230175.1:p.Pro204His	CA802142 NM_001243246.2:c.611C>A