Allele Registry

Canonical Allele Identifier: PA658810940

Gene: NPHP4 HGNC NCBI

ClinVar Allele:

494158

ClinVar RCV:

RCV000593557

RCV001100782

RCV001100783

RCV001509677

ClinVar Variation:

502735

HGVS (amino-acid)	Matching Registered Transcripts
NP_055917.1:p.Pro301Leu	CA554706 NM_015102.5:c.902C>T