Canonical Allele Identifier: PA337188
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 216011
ClinVar RCV Id: RCV000197404
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Glu330Lys
CA337187
NM_153240.5:c.988G>A