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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.[Asp328del;Val330_Lys334delinsArgArgGlu;Glu336_Met337del;Tyr339_Pro340delinsAsp;Leu342Val;Gly344_Ser348delinsArg;Gly350_Ile354delinsAlaArgLeu;Pro357_Gly359delinsLeuAlaArgVal]
CA1022879577
NM_001848.3:c.981_988del