Canonical Allele Identifier: PA916001062
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 200923
ClinVar RCV Id: RCV000182344 RCV000238290 RCV000775087 RCV002415774 RCV003477646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp700Asn
CA023633
NM_001195798.2:c.2098G>A