Allele Registry

Canonical Allele Identifier: PA658664184

Gene: P3H1 HGNC NCBI

ClinVar Allele:

448195

ClinVar RCV:

RCV000524616

RCV001424689

RCV003330780

ClinVar Variation:

468981

HGVS (amino-acid)	Matching Registered Transcripts
NP_071751.3:p.Gly716Ala	CA801513 NM_022356.4:c.2147G>C