Canonical Allele Identifier: PA916000232
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251865
ClinVar RCV Id: RCV000238411 RCV001699173 RCV001857828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp492Gly
CA10585475
NM_001195798.2:c.1475A>G