Canonical Allele Identifier: PA148750
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 95686
ClinVar RCV Id: RCV000081719 RCV000476917 RCV001096418 RCV001098156 RCV001528249 RCV004529858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Phe1393Leu
CA148749
NM_015102.5:c.4179T>A
CA338047734
NM_015102.5:c.4179T>G
CA338047747
NM_015102.5:c.4177T>C