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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005258335.1:p.[Ala943_Ala944insGly;Gln945_Asn948delinsAlaGlyGlnLeu;Thr950_Ala955delinsProAsnArgLeuArg;Ser957_Tyr963delinsLeuValLeuAspArgArgLeu;Asp965_Cys973delinsArgLeuGlyGluAlaThrValValLeu]
CA2695227443
XM_005258278.5:c.2830dup