Canonical Allele Identifier: PA2828479834
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287345
ClinVar RCV Id: RCV000283874 RCV000290776 RCV000341089 RCV000399532 RCV001094552 RCV004535382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361185.1:p.Thr317Ile
CA1827170
NM_001374256.1:c.950C>T