Canonical Allele Identifier: PA645487482
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 291194
ClinVar RCV Id: RCV000338910 RCV000764464 RCV000799611 RCV004543152
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Gly1299Asp
CA2621607
NM_153240.5:c.3896G>A