Canonical Allele Identifier: PA2825181422
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3074591
ClinVar RCV Id: RCV004014125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys816Glu
CA404098854
NM_000527.5:c.2446A>G