Canonical Allele Identifier: PA2826216269
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251571
ClinVar RCV Id: RCV000238426 RCV003165667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys191Tyr
CA10585226
NM_001195803.2:c.572G>A