Canonical Allele Identifier: PA2826217140
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252063
ClinVar RCV Id: RCV000238179 RCV000819650 RCV001699253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Glu488Lys
CA10585643
NM_001195803.2:c.1462G>A