Canonical Allele Identifier: PA2826216068
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927670
ClinVar RCV Id: RCV001191079 RCV002224017 RCV002480636 RCV003235489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln127Glu
CA029271
NM_001195803.2:c.379C>G