Canonical Allele Identifier: PA2830528980
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216416
ClinVar RCV Id: RCV000196832 RCV000730183 RCV001128696 RCV001135698 RCV001128695 RCV002282034 RCV002517295 RCV002478707
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997064.2:p.Glu676Gln
CA336743
NM_207181.4:c.2026G>C