Canonical Allele Identifier: PA916017860
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 190975
ClinVar RCV Id: RCV000171146 RCV000308383 RCV001093794 RCV000346948 RCV002478540
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278523.1:p.Arg847Trp
CA235731
NM_001291594.2:c.2539C>T