Canonical Allele Identifier: PA915999514
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251652
ClinVar RCV Id: RCV000237343 RCV000811581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys358Arg
CA10585293
NM_001195798.2:c.1072T>C