Allele Registry

Canonical Allele Identifier: PA148738

Gene: NPHP4 HGNC NCBI

ClinVar RCV:

RCV000081708

RCV000537976

RCV000986225

RCV001083511

RCV002294016

ClinVar Variation:

95675

HGVS (amino-acid)	Matching Registered Transcripts
NP_055917.1:p.Arg848Trp	CA148737 NM_015102.5:c.2542C>T