Allele Registry

Canonical Allele Identifier: PA645468996

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000261599

RCV000319080

RCV000385395

RCV000591051

RCV001094595

RCV001549752

RCV004544605

ClinVar Variation:

330730

HGVS (amino-acid)	Matching Registered Transcripts
NP_000263.2:p.Arg546Lys	CA1827002 NM_000272.5:c.1637G>A