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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000380870.1:p.[Glu695_Ile697delinsAlaSerGlyLeuArg;Gly699delinsAlaPro;Thr701_Thr703delinsHisProGln;Ala706Ser;Lys708_Phe709delinsProThrThr;Tyr711_Asp712delinsSerSer;Leu714_Ser718delinsArgAlaGlyAla;Gln721_Arg724delinsHisVal]
CA2573054956
ENST00000397763.6:c.2082_2083dup