Canonical Allele Identifier: PA2825178727
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1199380
ClinVar RCV Id: RCV001564009
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala348Val
CA404082834
NM_000527.5:c.1043C>T