Canonical Allele Identifier: PA2828480242
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216417
ClinVar RCV Id: RCV000199257 RCV000248910 RCV002517296
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361185.1:p.Gln637Arg
CA338494
NM_001374256.1:c.1910A>G