Canonical Allele Identifier: PA2826800354
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_001278522.1:p.Arg307Trp
CA554114
NM_001291593.2:c.919C>T