Canonical Allele Identifier: PA916001149
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183133
ClinVar RCV Id: RCV000162012 RCV000237615 RCV001178125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp748Asn
CA023653
NM_001195798.2:c.2242G>A