Canonical Allele Identifier: PA2826213579
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183125
ClinVar RCV Id: RCV000162000 RCV001804889 RCV002505198
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp548His
CA023571
NM_001195799.2:c.1642G>C