Canonical Allele Identifier: PA645487383
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 343392
ClinVar RCV Id: RCV000294973 RCV000317438 RCV000372111 RCV001850822 RCV002488742
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Ser111Phe
CA2622655
NM_153240.5:c.332C>T