Canonical Allele Identifier: PA2826213138
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3694
ClinVar RCV Id: RCV000003882 RCV000775062 RCV000786355 RCV002381239 RCV004017225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val388Met
CA023443
NM_001195799.2:c.1162G>A