Allele Registry

Canonical Allele Identifier: PA2826800373

Gene: NPHP4 HGNC NCBI

ClinVar RCV:

RCV000081708

RCV000537976

RCV000986225

RCV001083511

RCV002294016

ClinVar Variation:

95675

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278522.1:p.Arg335Trp	CA148737 NM_001291593.2:c.1003C>T