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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000395751.1:p.[His224_Glu225delinsProAla;Thr227_Gln232delinsArgArgThrTyrArg;Asp234_Asp235delinsProVal;Arg237_Lys245delinsLeuGlnGlyGlyCysGln;Ala247_Asn250del]
CA2392507582
ENST00000413758.1:c.669_691del