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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005258336.1:p.[Met277_Ala278delinsArgArg;Leu280Cys;Val282Cys;Phe284_Ala286delinsLeuGluHis;Phe288_Val299delinsLeuGlnCysGlyAlaThrGluAsnGlyIleLeu;Glu301_Tyr302delinsProSer;Thr303_Pro304insLeu;Ile305_Asp306delinsSerIle]
CA2641271867
XM_005258279.2:c.830del