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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.[Ser425_Val429delinsTrpGluLeuMetTyr;Phe431_Pro434del;Ile437_Ile439delinsLeuArg;His441_Thr454delinsThrTyrArgTyrCysThrArgPheLeuThrTyrLys]
CA8913503
XM_005258279.2:c.1274del