Canonical Allele Identifier: PA2826217129
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_001182732.1:p.Leu484_Val486del
CA10585639
NM_001195803.2:c.1452_1460del