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Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000295550.4:p.[Phe2515del;Asn2517Ala;Pro2519_Ser2523delinsHisProGlnGluHis;Gln2525_Arg2527delinsHisSerSer;Ala2529_Leu2533delinsArgLeuCysSerSer;Asp2535_Ala2536delinsGlnMetArg;Ile2538_Thr2539delinsSerPro;Leu2541_Phe2542delinsCysSer;Thr2544del]
CA10605613
ENST00000295550.9:c.7542del