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Canonical Allele Identifier: Get Identifier
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000483630.1:p.[Ser115_Lys125delinsGlnArgGlyArgGlyGlnValLeuTrpGlu;Thr127_Lys135delinsHisLeuHisArgLeuArgTyrGlnGlu;Leu137_Val142delinsAlaGlyAlaAlaProArg]
CA2557315542
ENST00000612273.1:c.342_343del