Canonical Allele Identifier: PA645502507
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 287002
ClinVar RCV Id: RCV000264657 RCV000868723 RCV003278741 RCV004543094
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Arg820Trp
CA554114
NM_015102.5:c.2458C>T