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: ABCA4
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000439707.2:p.Met211Arg
CA341285958
ENST00000536513.5:c.632T>G