Allele Registry

Canonical Allele Identifier: PA2826323748

Gene: P3H1 HGNC NCBI

ClinVar Allele:

273279

ClinVar RCV:

RCV000381836

RCV000756458

RCV002059256

RCV003910018

ClinVar Variation:

289042

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230175.1:p.Asn510Ser	CA801807 NM_001243246.2:c.1529A>G