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: GALT
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000368119.4:p.Leu264Ter
ENST00000378842.8:c.[790del;792_793insG]
ENST00000378842.8:c.[790del;793C>A]
ENST00000378842.8:c.[790del;793C>G]
ENST00000378842.8:c.790_792delinsTAG