Canonical Allele Identifier: PA2825665898
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 330730
ClinVar RCV Id: RCV000261599 RCV000319080 RCV000591051 RCV000385395 RCV001549752 RCV004544605 RCV001094595
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121651.1:p.Arg427Lys
CA1827002
NM_001128179.3:c.1280G>A