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_011508877.1:p.Phe1993Leu
CA351194856
XM_011510575.1:c.5979C>G
CA351194858
XM_011510575.1:c.5979C>A
CA351194873
XM_011510575.1:c.5977T>C