Canonical Allele Identifier: PA645377147
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251446
ClinVar RCV Id: RCV000237953 RCV000845535 RCV000775048 RCV001800605 RCV002401930
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg257Trp
CA029314
NM_000527.5:c.769C>T