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
ENSP00000387115.1:p.Gln199His
CA410522062
ENST00000409416.6:c.597G>T
CA410522063
ENST00000409416.6:c.597G>C