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_001182728.1:p.Lys540Ter
NM_001195799.2:c.[1614del;1616C>T;1619A>T...
NM_001195799.2:c.[1614del;1616C>T;1619A>T...
NM_001195799.2:c.1618A>T