Canonical Allele Identifier: PA2826216712
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183113
ClinVar RCV Id: RCV000161985 RCV000237193 RCV001804888 RCV003235078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly334Cys
CA023475
NM_001195803.2:c.1000G>T