Canonical Allele Identifier: PA915998617
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251311
ClinVar RCV Id: RCV000237775 RCV001065691 RCV002356331
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys197Trp
CA10585001
NM_001195798.2:c.591C>G