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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005258334.1:p.[Gly913_Lys920delinsArgAlaArgLeuHisPhePheGln;Gln922_Met929delinsAlaGluHisGlyValArgArgHis;Cys931_Ser935del;Val937del;Ile940_Asn942del]
CA913014995
XM_005258277.1:c.2736dup