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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881274.1:p.[Ala278delinsGlyVal;Leu280_Leu281delinsAlaCys;Phe284_Ala286delinsTrpSerIle;Phe288_Ala289delinsCysSer;Trp291_Arg294delinsValLeuGln;Arg296_Tyr297delinsThrVal;Val299_Ser307delinsCysLeuArgValHisSerHisArg]
CA297074601
XM_017025785.1:c.832dup