Allele Registry

Canonical Allele Identifier: PA2825929325

Gene: P3H1 HGNC NCBI

ClinVar RCV:

RCV000645494

RCV001097773

RCV001672913

RCV003905744

ClinVar Variation:

536818

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139761.1:p.Arg501Trp	CA801815 NM_001146289.2:c.1501C>T