Canonical Allele Identifier: PA2826800614
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 95682
ClinVar RCV Id: RCV000081715 RCV000292444 RCV000331197 RCV001573175 RCV001093742 RCV002294019 RCV002498430
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Ala597Val
CA223178
NM_001291593.2:c.1790C>T