Canonical Allele Identifier: PA916001340
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440697
ClinVar RCV Id: RCV000508875 RCV001796085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys816Gln
CA404098844
NM_001195798.2:c.2446A>C