Canonical Allele Identifier: PA915999653
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183108
ClinVar RCV Id: RCV000161980 RCV000238222 RCV001034680 RCV003162682 RCV003422054
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gln378Pro
CA023422
NM_001195798.2:c.1133A>C