Allele Registry

Canonical Allele Identifier: PA916074029

Gene: NPHP1 HGNC NCBI

ClinVar RCV:

RCV000117829

RCV000293377

RCV000350672

RCV000385350

RCV001094559

RCV001725973

RCV002294035

ClinVar Variation:

129813

HGVS (amino-acid)	Matching Registered Transcripts
NP_997064.2:p.Pro39Thr	CA154142 NM_207181.4:c.115C>A