Allele Registry

Canonical Allele Identifier: PA2825929437

Gene: P3H1 HGNC NCBI

ClinVar RCV:

RCV000547688

RCV001099454

RCV001539895

ClinVar Variation:

468979

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139761.1:p.Gln644Lys	CA801637 NM_001146289.2:c.1930C>A