Canonical Allele Identifier: PA645379417
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226372
ClinVar RCV Id: RCV000211698 RCV000775075 RCV002223823 RCV002399782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu582Pro
CA10576318
NM_000527.5:c.1745T>C