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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016881274.1:p.[Gly1009Arg;Asp1011_Met1013del;Phe1015del;Pro1017_Asn1023delinsHisGluIleProAlaHisVal;Asn1025_Cys1028delinsPhe;Lys1030_His1033del;Ala1035_Ala1039del]
CA2695227435
XM_017025785.1:c.3024_3025insA