Canonical Allele Identifier: PA2826215350
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1334395
ClinVar RCV Id: RCV001813909
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser418Pro
CA404089725
NM_001195800.2:c.1252T>C