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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000312529.5:p.[Lys653_Thr656delinsSerProArgGln;Thr658del;Gly661_Asp682delinsTrpAlaTrpCysSerThrAlaThrArgAlaProLeuArgProSerSerTrpThrThrAsnValSer]
CA638497867
ENST00000310645.9:c.1956del