Canonical Allele Identifier: PA2826211344
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000417304
ClinVar Variation:
375775
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr62Arg
CA16602292
NM_001195798.2:c.185C>G