Canonical Allele Identifier: PA916000241
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251870
ClinVar RCV Id: RCV000237577 RCV001209830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser499Pro
CA10585480
NM_001195798.2:c.1495T>C