Canonical Allele Identifier: PA2826800269
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 194765
ClinVar RCV Id: RCV000724060 RCV000986226 RCV001100471 RCV001088494 RCV004537377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Arg222Trp
CA240913
NM_001291593.2:c.664C>T