Canonical Allele Identifier: PA2826212257
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251239
ClinVar RCV Id: RCV000237671 RCV000712214 RCV001854887 RCV002327175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys114Gly
CA10584932
NM_001195799.2:c.340T>G