Canonical Allele Identifier: PA2826215271
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251967
ClinVar RCV Id: RCV000237781 RCV001753713 RCV001854905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Trp394dup
CA10585558
NM_001195800.2:c.1180_1182dup