Canonical Allele Identifier: PA2826211486
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251165
ClinVar RCV Id: RCV000237238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys116_Ile122del
CA10584865
NM_001195798.2:c.347_367del