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Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005246123.1:p.[Phe2108del;Asn2110Ala;Pro2112_Ser2116delinsHisProGlnGluHis;Gln2118_Arg2120delinsHisSerSer;Ala2122_Leu2126delinsArgLeuCysSerSer;Asp2128_Ala2129delinsGlnMetArg;Ile2131_Thr2132delinsSerPro;Leu2134_Phe2135delinsCysSer;Thr2137del]
CA10605613
XM_005246066.1:c.6321del