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: COL6A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011527754.1:p.Ser250Arg
CA410523411
XM_011529452.1:c.748A>C
CA410523422
XM_011529452.1:c.750C>A
CA410523424
XM_011529452.1:c.750C>G