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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.[Asp621_Asn643delinsGlyArgGlyLeuArgHisArgGlnLeuArgGluHisTrpValHisGlnLeuHisThrGlyGluGluLeu;Leu645delinsHisGlnArg;Ala647_Ile648delinsGlnGln;Lys650delinsGlyCysHisArg]
CA513170594
ENST00000409416.6:c.1843_1861dup