Canonical Allele Identifier: PA2826800376
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 297804
ClinVar RCV Id: RCV000330012 RCV000384597 RCV000593971 RCV001093852
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Asp340Tyr
CA554063
NM_001291593.2:c.1018G>T