Canonical Allele Identifier: PA2826217146
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252081
ClinVar RCV Id: RCV000237571
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val491_Thr494del
CA10585653
NM_001195803.2:c.1472_1483del