Canonical Allele Identifier: PA645502476
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 284999
ClinVar RCV Id: RCV000343427 RCV000332355 RCV001093815 RCV003151009 RCV002487222 RCV002519168 RCV000277373
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Pro482Leu
CA554499
NM_015102.5:c.1445C>T