Canonical Allele Identifier: PA358783
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 225182
ClinVar RCV Id: RCV000210833 RCV001181607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu418Lys
CA358781
NM_000527.5:c.1252G>A