Allele Registry

Canonical Allele Identifier: PA2826800912

Gene: NPHP4 HGNC NCBI

ClinVar RCV:

RCV000598206

RCV001257064

RCV001334815

ClinVar Variation:

497880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278523.1:p.Arg25Gln	CA554517 NM_001291594.2:c.74G>A