Canonical Allele Identifier: PA2826212846
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431520
ClinVar RCV Id: RCV000497150
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu296_Cys297del
CA645373262
NM_001195799.2:c.886_891del