This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000483630.1:p.[Val97_Leu113delinsTrpArgSerSerLysAlaSerArgAlaCysLeuAlaAlaAlaThrHisSer;Ser115_Phe123delinsAlaAlaTrpThrArgSerSerThrLeu;Lys125_Gly126delinsArgAla]
CA10069519
ENST00000612273.1:c.289del