Canonical Allele Identifier: PA2826212738
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161281
ClinVar RCV Id: RCV000238462 RCV000657894 RCV000791388 RCV000781501 RCV002051674 RCV002444607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg262Trp
CA023787
NM_001195799.2:c.784C>T