Canonical Allele Identifier: PA916001163
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440687
ClinVar RCV Id: RCV000508915
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly754Arg
CA404095424
NM_001195798.2:c.2260G>A
CA404095426
NM_001195798.2:c.2260G>C