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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881275.1:p.[Phe284_Ala286delinsTrpSerIle;Phe288_Ala289delinsCysSer;Trp291_Arg294delinsValLeuGln;Arg296_Tyr297delinsThrVal;Val299_Asp306delinsCysLeuArgValHis;Asn308_Ser312delinsHisArg]
CA2580612675
XM_017025786.1:c.846_847del