Canonical Allele Identifier: PA2829776820
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 297821
ClinVar RCV Id: RCV000289380 RCV000325654 RCV000592347 RCV001320330 RCV002494924 RCV004021448 RCV004544495
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Arg470Trp
CA554528
NM_015102.5:c.1408C>T