Canonical Allele Identifier: PA2826215345
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252018
ClinVar RCV Id: RCV000238270
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ile417Thr
CA10585601
NM_001195800.2:c.1250T>C