Canonical Allele Identifier: PA2826211500
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441184
ClinVar RCV Id: RCV000509240
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys121_Gln125del
CA658653698
NM_001195798.2:c.362_376del