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
XP_016858793.1:p.Lys1250Asn
CA222633
XM_017003304.1:c.3750G>C
CA351217638
XM_017003304.1:c.3750G>T