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Canonical Allele Identifier: Get Identifier
Gene: NPHP3-ACAD11 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000419763.1:p.[Lys124_Leu126delinsAsnAlaGly;Arg127_Ala128insThr;Glu129_Leu141delinsGlyThrSerLysAsnValSerGluAspThrSerArgLys;Glu143del;Glu145_Leu148delinsCysPheArgSer;Ala150_Met155delinsIleProSerAsn]
CA1139658271
ENST00000471702.2:c.372_376del