Canonical Allele Identifier: PA645379758
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252096
ClinVar RCV Id: RCV000238541 RCV000426889 RCV000771171 RCV002411101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile623Val
CA037254
NM_000527.5:c.1867A>G