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: ELN
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265842.1:p.Leu416_Gly427del
CA4293067
NM_001278913.2:c.1221_1256del
CA4293071
NM_001278913.2:c.1245_1280del