Canonical Allele Identifier: PA2826216287
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 951687
ClinVar RCV Id: RCV001223659
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ser199_Cys202del
CA1139666265
NM_001195803.2:c.594_605del