Allele Registry

Canonical Allele Identifier: PA220571

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000078491

RCV001243180

RCV002483130

RCV002514380

ClinVar Variation:

92720

HGVS (amino-acid)	Matching Registered Transcripts
NP_000263.2:p.Ala258Val	CA220570 NM_000272.5:c.773C>T