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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006722542.1:p.[His1059_Leu1062del;Thr1064_Ala1071delinsProCysCysArgProLeuLeuThr;Lys1073_Arg1076del;Ile1078_Val1082del;Glu1084_Met1086delinsLeu;Ile1088_Gly1090del]
CA2695227429
XM_006722479.3:c.3177del