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
NP_001182732.1:p.Ser457Pro
NM_001195803.2:c.[1369del;1371C=;1372dup]...
NM_001195803.2:c.[1369del;1372dup]
NM_001195803.2:c.1369T>C