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Canonical Allele Identifier: Get Identifier
Gene: MCOLN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000264079.5:p.[Leu358_Ser367delinsAlaArgHisGlnArgCysAlaHisHisLeu;Thr369_Asn379delinsHisHisHisGluAspArgHisArgGlyGlnGlu;Ala381_Ser387delinsGlyGluLeuArgArgLeuGln]
CA2841549187
ENST00000264079.11:c.1071dup