Canonical Allele Identifier: PA915999720
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251697
ClinVar RCV Id: RCV000237662 RCV001067561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys392Arg
CA10585335
NM_001195798.2:c.1174T>C