Canonical Allele Identifier: PA201363
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 96511
ClinVar RCV Id: RCV000175246 RCV002281916 RCV002513853 RCV004528299
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Leu790Pro
CA201362
NM_153240.5:c.2369T>C