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Canonical Allele Identifier: Get Identifier
Gene: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011527753.1:p.[Gly277_Gly292delinsGluSerLeuAlaArgArgGluAspArgGluThrArgAlaSerLysAla;Ile294_Gly298delinsLeuAspSerGlnAsp;Lys300_Phe305delinsArgAlaPheLeuAlaSer]
CA658799473
XM_011529451.1:c.830del