Allele Registry

Canonical Allele Identifier: PA2828480242

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000199257

RCV000248910

RCV002517296

ClinVar Variation:

216417

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361185.1:p.Gln637Arg	CA338494 NM_001374256.1:c.1910A>G