Canonical Allele Identifier: PA2825665483
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 501727
ClinVar RCV Id: RCV000594034 RCV000638098 RCV004543376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121650.1:p.Ile473Met
CA1827026
NM_001128178.3:c.1419A>G