Canonical Allele Identifier: PA658811706
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 499254
ClinVar RCV Id: RCV000593437 RCV001056390 RCV002476302 RCV004024761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Ala1011Val
CA2621861
NM_153240.5:c.3032C>T