Canonical Allele Identifier: PA916000295
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251893
ClinVar RCV Id: RCV000237117 RCV001699251
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser517Pro
CA10585497
NM_001195798.2:c.1549T>C