Canonical Allele Identifier: PA916001540
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226322
ClinVar RCV Id: RCV000211566 RCV000494460 RCV000775036 RCV000844756 RCV002372212
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys93Arg
CA10576281
NM_001195799.2:c.277T>C