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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000387115.1:p.[Gln285_Asp287delinsArgArg;Ile290_Gly292delinsHisArgArg;Ile294_Phe296delinsHisTrpIle;Gly298_Lys300delinsArgThrGln;Val302_Gly310delinsArgSerTrpLeuGlnArgArg;Phe312del;Ala314_Asp315del]
CA2695230341
ENST00000409416.6:c.854_855del