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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.[Gln991Arg;Gly993_Met996del;Phe998del;Pro1000_Asn1006delinsHisGluIleProAlaHisVal;Asn1008_Cys1011delinsPhe;Lys1013_His1016del;Ala1018_Ala1022del]
CA274149
ENST00000269228.10:c.2972_2973del