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Canonical Allele Identifier: Get Identifier
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.[Gly329_Asp331delinsArg;Val333_Lys334delinsArgTrp;Glu336_Lys346delinsThrGlnAlaCysGlnAlaAlaArgAlaArgPro;Ser348_Gly350delinsLeuThrAla;Asp352_Gly356delinsLysAsp;Pro358_Gly359delinsLeuAla;Lys361_Asp363delinsArgGluThr]
CA1022879603
NM_001848.3:c.985_1000del