Allele Registry

Canonical Allele Identifier: PA2830528980

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000196832

RCV000730183

RCV001128695

RCV001128696

RCV001135698

RCV002282034

RCV002478707

RCV002517295

ClinVar Variation:

216416

HGVS (amino-acid)	Matching Registered Transcripts
NP_997064.2:p.Glu676Gln	CA336743 NM_207181.4:c.2026G>C