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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005258335.1:p.[Leu666_Gly674delinsTrpTrp;Ala676_Leu682delinsArgArg;Ser684_Leu689delinsHis;Val691_Gly696del]
CA2641278429
XM_005258278.5:c.1996del