Canonical Allele Identifier: PA2825181415
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1509293
ClinVar RCV Id: RCV002040636 RCV002486679 RCV002458987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg814Trp
CA040769
NM_000527.5:c.2440C>T