Canonical Allele Identifier: PA916001490
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251185
ClinVar RCV Id: RCV000238243 RCV000455754 RCV001833251
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg83Trp
CA10584884
NM_001195799.2:c.247C>T