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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881276.1:p.[Gly896_Lys903delinsArgAlaArgLeuHisPhePheGln;Gln905_Met912delinsAlaGluHisGlyValArgArgHis;Cys914_Ser918del;Val920del;Ile923_Asn925del]
CA913014995
XM_017025787.1:c.2685dup