Canonical Allele Identifier: PA2826800215
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 499988
ClinVar RCV Id: RCV000595006 RCV000862361 RCV001097015 RCV001097016 RCV004543360
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Arg161Leu
CA554299
NM_001291593.2:c.482G>T