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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881273.1:p.[Ser442_Val446delinsTrpGluLeuMetTyr;Phe448_Pro451del;Ile454_Ile456delinsLeuArg;His458_Thr471delinsThrTyrArgTyrCysThrArgPheLeuThrTyrLys]
CA8913503
XM_017025784.1:c.1325del