Canonical Allele Identifier: PA658679274
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_000518.1:p.[Lys311Arg;Cys313Trp]
CA645373256
NM_000527.5:c.[932A>G;939C>G]
CA658656796
NM_000527.5:c.932_939delinsGAGAGTGG