Canonical Allele Identifier: PA2826211536
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251197
ClinVar RCV Id: RCV000237659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser130Pro
CA10584896
NM_001195798.2:c.388T>C