Allele Registry

Canonical Allele Identifier: PA645426041

Gene: P3H1 HGNC NCBI

ClinVar RCV:

RCV000354246

RCV000810347

RCV002307480

ClinVar Variation:

288206

HGVS (amino-acid)	Matching Registered Transcripts
NP_071751.3:p.Gln722Lys	CA801502 NM_022356.4:c.2164C>A