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Canonical Allele Identifier: Get Identifier
Gene: MCOLN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.[Lys55_Arg57delinsSerAspAla;Lys59Ser;Arg61_Lys62delinsGlnAsp;Cys64_Leu74delinsGlyGlyHisGlyAlaAlaHisPro;Val76_Val78delinsTrpAla;Leu80_Glu95del]
CA347342
NM_020533.3:c.163_197delinsTCA