Allele Registry

Canonical Allele Identifier: PA645502476

Gene: NPHP4 HGNC NCBI

ClinVar RCV:

RCV000277373

RCV000332355

RCV000343427

RCV001093815

RCV002487222

RCV002519168

RCV003151009

ClinVar Variation:

284999

HGVS (amino-acid)	Matching Registered Transcripts
NP_055917.1:p.Pro482Leu	CA554499 NM_015102.5:c.1445C>T