Canonical Allele Identifier: PA2826214457
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977998
ClinVar RCV Id: RCV001255954
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys116del
CA1139666260
NM_001195800.2:c.346_348del