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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.[Leu577_Leu578insArgGlu;Leu578_Val579insIleArgProAspCysArgTrpThr;Asn580delinsGlyProGlyLeuGlnArgProProProProThrProLeuIleTyrLeu]
CA913046765
NM_020533.3:c.1733_1734del