ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828480561
Gene: NPHP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361186.1:p.Phe163Tyr
CA348092851
NM_001374257.1:c.488T>A