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
ENSP00000418285.1:p.Val2264Leu
CA351191987
ENST00000472056.5:c.6790G>T
CA351191988
ENST00000472056.5:c.6790G>C