Canonical Allele Identifier: PA2826217215
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252118
ClinVar RCV Id: RCV000238167 RCV002223828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu519Ile
CA037469
NM_001195803.2:c.1555C>A