Canonical Allele Identifier: PA2826801046
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 240967
ClinVar RCV Id: RCV000233672 RCV000248287 RCV000364078 RCV001093858 RCV002294087 RCV003224236
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278523.1:p.Arg228His
CA554238
NM_001291594.2:c.683G>A