Canonical Allele Identifier: PA2826212537
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251396
ClinVar RCV Id: RCV000238043 RCV001246502 RCV002365243
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys190Arg
CA10585083
NM_001195799.2:c.568T>C