Canonical Allele Identifier: PA915999951
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3695
ClinVar RCV Id: RCV000003883 RCV000985760 RCV000806811 RCV002381240 RCV004017226
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala431Thr
CA023445
NM_001195798.2:c.1291G>A