Canonical Allele Identifier: PA2826800275
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_001278522.1:p.Arg227His
CA554238
NM_001291593.2:c.680G>A