Allele Registry

Canonical Allele Identifier: PA658664174

Gene: P3H1 HGNC NCBI

ClinVar Allele:

448116

ClinVar RCV:

RCV000547688

RCV001099454

RCV001539895

ClinVar Variation:

468979

HGVS (amino-acid)	Matching Registered Transcripts
NP_071751.3:p.Gln644Lys	CA801637 NM_022356.4:c.1930C>A