Allele Registry

Canonical Allele Identifier: PA645468873

Gene: NPHP1 HGNC NCBI

ClinVar Variation Id: 430207

HGVS (amino-acid)	Matching Registered Transcripts
NP_000263.2:p.Arg15Ser	CA1827542 NM_000272.5:c.43C>A