ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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: COL6A2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000395751.1:p.Phe228Tyr
CA410539793
ENST00000413758.1:c.683T>A