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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.[Val333_Lys334delinsGlyArg;Glu336_Met337delinsArgTrp;Tyr339_Ser348delinsThrGlnAlaCysGlnAlaAlaArgAlaArg;Phe351_Gly356delinsLeuThrAlaPheLysAsp;Pro358_Gly359delinsLeuAla;Lys361_Gly362delinsArgGlu]
CA1022879655
ENST00000612273.1:c.998del