Canonical Allele Identifier: PA2828479379
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430207
ClinVar RCV Id: RCV000493608 RCV001408140 RCV004535553
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361185.1:p.Arg15Ser
CA1827542
NM_001374256.1:c.43C>A