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
ENSP00000440520.1:p.Gln645Ter
ENST00000535915.5:c.[1932del;1933_1934ins...
ENST00000535915.5:c.[1932del;1934A>T]
ENST00000535915.5:c.[1932del;1934A>T;1936...
ENST00000535915.5:c.[1932del;1934A>T;1936...
ENST00000535915.5:c.1933C>T