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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.[Arg680_Ser685delinsIleSerThrProCysArgAla;Phe687_Ile697delinsArgArgLeuSerArgThrSerSerGlyLeuArg;Gly699delinsAlaPro;Thr701_Thr703delinsHisProGln;Ala706Ser;Lys708_Phe709del]
CA16621031
NM_001849.4:c.2038_2039delinsA