Allele Registry

Canonical Allele Identifier: PA2825665483

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000594034

RCV000638098

RCV004543376

ClinVar Variation:

501727

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121650.1:p.Ile473Met	CA1827026 NM_001128178.3:c.1419A>G