Canonical Allele Identifier: PA645376197
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251247
ClinVar RCV Id: RCV000237398 RCV002284384 RCV002327176
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys160Arg
CA10584939
NM_000527.5:c.478T>C