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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000269228.4:p.[Leu649_Gly657delinsTrpTrp;Ala659_Leu665delinsArgArg;Ser667_Ile678delinsHis]
CA2641278429
ENST00000269228.10:c.1945del