Canonical Allele Identifier: PA2826215479
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1171241
ClinVar RCV Id: RCV001524196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser462Thr
CA404092673
NM_001195800.2:c.1385G>C