Canonical Allele Identifier: PA645375456
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000417304
ClinVar Variation:
375775
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr62Arg
CA16602292
NM_000527.5:c.185C>G