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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005258336.1:p.[Glu895del;His897_Gly904delinsArgAlaArgLeuHisPhePhe;Asn906_Cys909delinsGlyAlaGluHis;Gly911_Ser918delinsValArgArgHisGly;Val920del;Ile923_Phe924del]
CA658824817
XM_005258279.2:c.2683dup