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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.[Ser666_Gly669delinsAla;Phe671_Glu672delinsArg;Ile674_Leu684delinsProLeuArgProSerSerTrpThrThrAsnVal;Ser686_Glu689delinsThrProCysArg;Val691_Asn693delinsSerArgArg;Glu695delinsSerArgThrSerSer]
CA2654974007
NM_001849.4:c.1996del