Canonical Allele Identifier: PA658810940
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 502735
ClinVar RCV Id: RCV000593557 RCV001100782 RCV001100783 RCV001509677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Pro301Leu
CA554706
NM_015102.5:c.902C>T