Canonical Allele Identifier: PA645510854
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440645
ClinVar RCV Id: RCV000508884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp483Leu
CA404086098
NM_000527.5:c.1448G>T