Canonical Allele Identifier: PA2830529003
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_997064.2:p.Gln693Arg
CA338494
NM_207181.4:c.2078A>G