Allele Registry

Canonical Allele Identifier: PA242463

Gene: NPHP4 HGNC NCBI

ClinVar Allele:

192989

ClinVar RCV:

RCV000176491

RCV000862808

RCV003224190

ClinVar Variation:

195828

HGVS (amino-acid)	Matching Registered Transcripts
NP_055917.1:p.Pro1152Ser	CA242462 NM_015102.5:c.3454C>T