Canonical Allele Identifier: PA2826215689
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252231
ClinVar RCV Id: RCV000238080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys543Phe
CA10585784
NM_001195800.2:c.1628G>T