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.Ala350Thr
ENST00000535915.5:c.[1044del;1047G>A;1049...
ENST00000535915.5:c.1048G>A
