Canonical Allele Identifier: PA2826800819
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 499260
ClinVar RCV Id: RCV000592208 RCV001088286 RCV001849405 RCV003151110
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Pro815Leu
CA553402
NM_001291593.2:c.2444C>T