Allele Registry

Canonical Allele Identifier: PA2825929215

Gene: P3H1 HGNC NCBI

ClinVar RCV:

RCV000443398

RCV000532565

RCV001101548

ClinVar Variation:

379444

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139761.1:p.Gly349Arg	CA801996 NM_001146289.2:c.1045G>A CA339958828 NM_001146289.2:c.1045G>C