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
ENSP00000369950.5:p.Leu478_Gly489del
CA4293067
ENST00000380576.9:c.1407_1442del
CA4293071
ENST00000380576.9:c.1431_1466del