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
ENSP00000386844.1:p.Gln1833His
CA2188461
ENST00000409809.5:c.5499G>C
CA351217794
ENST00000409809.5:c.5499G>T