Canonical Allele Identifier: PA220571
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92720
ClinVar RCV Id: RCV000078491 RCV001243180 RCV002483130 RCV002514380
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000263.2:p.Ala258Val
CA220570
NM_000272.5:c.773C>T