Canonical Allele Identifier: PA2826213148
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1705273
ClinVar RCV Id: RCV002283590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp392Val
CA404085025
NM_001195799.2:c.1175A>T