Canonical Allele Identifier: PA2826217009
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251996
ClinVar RCV Id: RCV000237135 RCV000791382 RCV001256078 RCV002287397 RCV002411086 RCV002461041 RCV003401206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg447His
CA036197
NM_001195803.2:c.1340G>A