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.Phe2188Leu
CA351194856
ENST00000472056.5:c.6564C>G
CA351194858
ENST00000472056.5:c.6564C>A
CA351194873
ENST00000472056.5:c.6562T>C