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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.[Ser223_Gly226delinsAla;Phe228_Glu229delinsArg;Ile231_Leu241delinsProLeuArgProSerSerTrpThrThrAsnVal;Ser243_Glu246delinsThrProCysArg;Val248_Asn250delinsSerArgArgLeuSerArg]
CA2654974007
ENST00000413758.1:c.667del