Canonical Allele Identifier: PA2825180963
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1171684
ClinVar RCV Id: RCV001524958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu716Ala
CA404094756
NM_000527.5:c.2147A>C