Canonical Allele Identifier: PA2826212918
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251649
ClinVar RCV Id: RCV000237189 RCV000775054 RCV001699265 RCV002411084 RCV004017551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu316Lys
CA10585290
NM_001195799.2:c.946G>A