Canonical Allele Identifier: PA915999859
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251748
ClinVar RCV Id: RCV000238192 RCV001174782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp415His
CA10585371
NM_001195798.2:c.1243G>C