Allele Registry

Canonical Allele Identifier: PA2826800366

Gene: NPHP4 HGNC NCBI

ClinVar RCV:

RCV000334924

RCV000861203

RCV001102311

RCV001102312

RCV001354108

RCV002518104

ClinVar Variation:

289888

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278522.1:p.Ser327Asn	CA554073 NM_001291593.2:c.980G>A