ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit
here
for the production version.
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: KCNQ1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000434560.2:p.Asp230Ala
CA379132985
ENST00000496887.7:c.689A>C