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: LDLR
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000397829.2:p.Ser416Pro
ENST00000455727.6:c.[1246del;1248C=;1249d...
ENST00000455727.6:c.[1246del;1249dup]
ENST00000455727.6:c.1246T>C
