Canonical Allele Identifier: PA916000713
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252057
ClinVar RCV Id: RCV000238494
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu611_Val613del
CA10585639
NM_001195798.2:c.1833_1841del