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Canonical Allele Identifier: Get Identifier
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000355180.3:p.[Lys334del;Glu336_Met337del;Tyr339_Pro340delinsAsp;Leu342Val;Gly344_Ser348delinsArg;Gly350_Ile354delinsAlaArgLeu;Pro357_Asp363delinsLeuAlaArgVal]
CA2517465707
ENST00000361866.8:c.1000_1001del