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
ENSP00000315609.4:p.Thr2417Ser
CA351188725
ENST00000347401.7:c.7250C>G
CA351188733
ENST00000347401.7:c.7249A>T