Canonical Allele Identifier: PA915999475
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226343
ClinVar RCV Id: RCV000211597 RCV001183695 RCV002399776 RCV002259322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg350Pro
CA10576296
NM_001195798.2:c.1049G>C