Canonical Allele Identifier: PA916017811
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 190976
ClinVar RCV Id: RCV000171147 RCV001058651 RCV002485085 RCV004535163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278523.1:p.Arg542Cys
CA235733
NM_001291594.2:c.1624C>T