Canonical Allele Identifier: PA915998361
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251225
ClinVar RCV Id: RCV000238228 RCV002327174 RCV002518475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys148Tyr
CA10584921
NM_001195798.2:c.443G>A