ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: ELN
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000369936.4:p.Val491_Gly502del
CA4293055
ENST00000380562.8:c.1452_1487del
CA4293061
ENST00000380562.8:c.1471_1506del