Allele Registry

Canonical Allele Identifier: PA2825666012

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000199257

RCV000248910

RCV002517296

ClinVar Variation:

216417

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121651.1:p.Gln575Arg	CA338494 NM_001128179.3:c.1724A>G