Canonical Allele Identifier: PA097051
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 281181
ClinVar RCV Id: RCV000357469 RCV000543369 RCV001100781 RCV001100780 RCV002294211 RCV003409400
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Arg342Cys
CA554665
NM_015102.5:c.1024C>T