Canonical Allele Identifier: PA916000756
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252092
ClinVar RCV Id: RCV000238037 RCV000812951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp622Asn
CA10585663
NM_001195798.2:c.1864G>A