Allele Registry

Canonical Allele Identifier: PA916074017

Gene: NPHP1 HGNC NCBI

ClinVar Variation Id: 430207

HGVS (amino-acid)	Matching Registered Transcripts
NP_997064.2:p.Arg15Ser	CA1827542 NM_207181.4:c.43C>A