Canonical Allele Identifier: PA915998949
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251432
ClinVar RCV Id: RCV000237580 RCV001854889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile249Thr
CA10585112
NM_001195798.2:c.746T>C