Canonical Allele Identifier: PA242463
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 195828
ClinVar RCV Id: RCV000176491 RCV000862808 RCV003224190
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Pro1152Ser
CA242462
NM_015102.5:c.3454C>T