Canonical Allele Identifier: PA1139697818
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 843407
ClinVar RCV Id: RCV001046025 RCV002227241 RCV004031422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg253Gln
CA029258
NM_001195798.2:c.758G>A