Canonical Allele Identifier: PA2499246424
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016708
ClinVar RCV Id: RCV001315751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278523.1:p.Ala828Val
CA553378
NM_001291594.2:c.2483C>T