Canonical Allele Identifier: PA2826800508
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 195608
ClinVar RCV Id: RCV000261619 RCV000367814 RCV000723970 RCV001093746 RCV004537396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Glu476Lys
CA242083
NM_001291593.2:c.1426G>A