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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.[Gly992Arg;Asp994_Met996del;Phe998del;Pro1000_Asn1006delinsHisGluIleProAlaHisVal;Asn1008_Cys1011delinsPhe;Lys1013_Ser1021del]
CA2695227435
NM_000271.5:c.2973_2974insA