Canonical Allele Identifier: PA2826800475
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 167373
ClinVar RCV Id: RCV000153585 RCV000206662 RCV000986223 RCV001098462 RCV001084832 RCV003447506 RCV002294050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Arg448His
CA333575
NM_001291593.2:c.1343G>A