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Canonical Allele Identifier: Get Identifier
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000355180.3:p.[Val97_Leu113delinsTrpArgSerSerLysAlaSerArgAlaCysLeuAlaAlaAlaThrHisSer;Ser115_Phe123delinsAlaAlaTrpThrArgSerSerThrLeu;Lys125_Gly126delinsArgAla]
CA10069519
ENST00000361866.8:c.289del