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Canonical Allele Identifier: Get Identifier
Gene: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016858793.1:p.[Thr2091_Pro2105delinsGlnHisAsnLysAlaCysAspTyrTyrLysSerAlaIleCysGlu;Ala2107_Pro2110delinsSerArgCysLys;Ala2111_Pro2112insGly;Ala2113_Pro2120delinsCysGluThrCysGlyCysGlnAla]
CA2754786750
XM_017003304.1:c.6270_6271insCAAC