Canonical Allele Identifier: PA645487428
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 343386
ClinVar RCV Id: RCV000314328 RCV000348230 RCV000393177 RCV000592297 RCV004530387 RCV001094838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Ile618Thr
CA2622191
NM_153240.5:c.1853T>C