Canonical Allele Identifier: PA645378334
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251756
ClinVar RCV Id: RCV000237429 RCV001238043
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Tyr419His
CA10585378
NM_000527.5:c.1255T>C