Canonical Allele Identifier: PA2826212495
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251377
ClinVar RCV Id: RCV000238131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Lys184_Asp186dup
CA10585067
NM_001195799.2:c.550_558dup