Canonical Allele Identifier: PA2825181167
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2015556
ClinVar RCV Id: RCV002846414
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala776Pro
CA404096676
NM_000527.5:c.2326G>C