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: CHM
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_016884731.1:p.Ser340Ter
XM_017029242.2:c.1019C>A
XM_017029242.2:c.1019C>G
XM_017029242.2:c.1019_1020delinsGAC