Canonical Allele Identifier: PA2826216247
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 453194
ClinVar RCV Id: RCV000519981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Lys184Arg;Cys186Trp]
CA645373256
NM_001195803.2:c.[551A>G;558C>G]
CA658656796
NM_001195803.2:c.551_558delinsGAGAGTGG