Canonical Allele Identifier: PA915998644
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251326
ClinVar RCV Id: RCV000238157
ClinVar Variation Id: 265899
ClinVar RCV Id: RCV000256237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly207_Ser213del
CA10585016
NM_001195798.2:c.619_639del
CA10588893
NM_001195798.2:c.618_638del