Canonical Allele Identifier: PA916000355
Gene: LDLR HGNC NCBI
ClinVar Allele:
246218
ClinVar RCV:
RCV000238413
ClinVar Variation:
251904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro526Arg
CA10585509
NM_001195798.2:c.1577C>G