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: COL6A3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000315609.4:p.Ser2257Arg
CA351192020
ENST00000347401.7:c.6771T>G
CA351192021
ENST00000347401.7:c.6771T>A
CA351192025
ENST00000347401.7:c.6769A>C