Canonical Allele Identifier: PA915999437
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251603
ClinVar RCV Id: RCV000238495 RCV000454858 RCV001191369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp342Tyr
CA10585255
NM_001195798.2:c.1024G>T