Canonical Allele Identifier: PA2826215343
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252015
ClinVar RCV Id: RCV000238337 RCV001293734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser416Pro
CA10585598
NM_001195800.2:c.1246T>C