Canonical Allele Identifier: PA916000298
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251894
ClinVar RCV Id: RCV000237694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys518Glu
CA10585499
NM_001195798.2:c.1552A>G