Allele Registry

Canonical Allele Identifier: PA2826801046

Gene: NPHP4 HGNC NCBI

ClinVar RCV:

RCV000233672

RCV000248287

RCV000364078

RCV001093858

RCV002294087

RCV003224236

ClinVar Variation:

240967

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278523.1:p.Arg228His	CA554238 NM_001291594.2:c.683G>A