Canonical Allele Identifier: PA645380171
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252184
ClinVar RCV Id: RCV000237441
ClinVar Variation Id: 252187
ClinVar RCV Id: RCV000237573
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys681Ser
CA10585739
NM_000527.5:c.2041T>A
CA10585742
NM_000527.5:c.2042G>C