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Canonical Allele Identifier: Get Identifier
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000483630.1:p.[Asp331del;Val333_Lys334delinsTrpGly;Glu336_Pro340delinsArgArgGlu;Leu342_Pro343del;Cys345_Lys346delinsAsp;Ser348Val;Gly350_Ile354delinsArgProAlaArgLeu;Pro357_Pro360delinsLeuAlaArgVal]
CA2521489183
ENST00000612273.1:c.991_992insGATGGGGTGG