Allele Registry

Canonical Allele Identifier: PA916017829

Gene: NPHP4 HGNC NCBI

ClinVar Allele:

192989

ClinVar RCV:

RCV000176491

RCV000862808

RCV003224190

ClinVar Variation:

195828

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278523.1:p.Pro640Ser	CA242462 NM_001291594.2:c.1918C>T