Canonical Allele Identifier: PA2826212547
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251421
ClinVar RCV Id: RCV000237333 RCV000791408
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg196Cys
CA10585102
NM_001195799.2:c.586C>T