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
ENSP00000380870.1:p.Lys318Asn
CA10575985
ENST00000397763.6:c.954G>T
CA410527027
ENST00000397763.6:c.954G>C