Canonical Allele Identifier: PA2826215305
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183123
ClinVar RCV Id: RCV000161998 RCV000238063 RCV000791378 RCV002399590 RCV003330518
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg406Cys
CA023561
NM_001195800.2:c.1216C>T