Canonical Allele Identifier: PA097126
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 297808
ClinVar RCV Id: RCV000283252 RCV000338114 RCV000592408 RCV001379795
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Gly754Arg
CA554220
NM_015102.5:c.2260G>A
CA338059333
NM_015102.5:c.2260G>C