Canonical Allele Identifier: PA2826212261
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251238
ClinVar RCV Id: RCV000237283 RCV002338778
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys114Arg
CA10584931
NM_001195799.2:c.340T>C