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Canonical Allele Identifier: Get Identifier
Gene: NPHP3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508078.1:p.[Asn455_His461delinsGlnHisThrAspSerPhePro;Val463Cys;Arg465_Ser474delinsLysAlaHisValAsnGln;Ile476_Arg479delinsArgVal;Thr481del;Lys483_Leu484delinsAspTyr]
CA2832542417
ENST00000684294.1:c.1362dup