Canonical Allele Identifier: PA234418
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 167379
ClinVar RCV Id: RCV000153593 RCV000168169 RCV001145351 RCV001145350 RCV001149669 RCV001704114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Arg397Cys
CA234417
NM_153240.5:c.1189C>T