Canonical Allele Identifier: PA658810966
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 499799
ClinVar RCV Id: RCV000594257 RCV001052189 RCV004543357
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Pro493Leu
CA554485
NM_015102.5:c.1478C>T