Canonical Allele Identifier: PA101749
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288174
ClinVar RCV Id: RCV000356632 RCV001054416 RCV002282110 RCV002502143
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Ala1221Val
CA2621683
NM_153240.5:c.3662C>T