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Canonical Allele Identifier: Get Identifier
Gene: NPHP3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000419907.1:p.[Ile446_Gln447insLeu;Gln447_Leu448insGlnLysAsnSerProAsnThr;Leu448_Gln449insIleLeuSerHisPheValGlyArgProMetSerThrSerSerGluSerSerLeuIleIleLysArgLeuThrLeuLysLeuMet;Gln449_Gln450insHisSerTrpSerValSerAlaLeuThrLeuAspProAlaLysLeuLeuGluGluPheProArgTrpLeuGluLysLeuSerAlaArgHisGlnGlySerIleIleIleValIleAspSerIleAspGlnValGlnValValAlaTyrThrSerSerTerLeu]