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: COL2A1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_149162.2:p.Ser932Ter
NM_033150.3:c.[2793_2794del;2796G>T;2798G...
NM_033150.3:c.2795C>A