Canonical Allele Identifier: PA915999389
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251588
ClinVar RCV Id: RCV000237664 RCV001804975
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Tyr336Cys
CA10585241
NM_001195798.2:c.1007A>G