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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.[Asp156_Thr160delinsMetThrLeuPro;Asp163_Lys166delinsGlnThrVal;Cys168_Gly169delinsSer;Leu171_Asp178delinsValAlaProTrpThrTrpSerSer;Glu181_Tyr185delinsThrAlaProArgAlaLeuGly]
CA10072281
ENST00000413758.1:c.465del