Canonical Allele Identifier: PA2828480174
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288529
ClinVar RCV Id: RCV000303839 RCV001067121 RCV004021253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361185.1:p.Thr595Met
CA1826867
NM_001374256.1:c.1784C>T