Allele Registry

Canonical Allele Identifier: PA916017820

Gene: NPHP4 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

101579

ClinVar RCV:

RCV000081715

RCV000292444

RCV000331197

RCV001093742

RCV001573175

RCV002294019

RCV002498430

ClinVar Variation:

95682

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001278523.1:p.Ala598Val	CA223178 NM_001291594.2:c.1793C>T