Allele Registry

Canonical Allele Identifier: PA2826800779

Gene: NPHP4 HGNC NCBI

ClinVar RCV:

RCV000395711

RCV001080139

RCV004535377

ClinVar Variation:

286996

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278522.1:p.Arg771His	CA553438 NM_001291593.2:c.2312G>A