Canonical Allele Identifier: PA2826216348
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_001182732.1:p.Asp215Tyr
CA10585255
NM_001195803.2:c.643G>T