Canonical Allele Identifier: PA100681
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161271
ClinVar RCV Id: RCV000162001 RCV000172964 RCV000587007 RCV000844730 RCV002399517 RCV003330084 RCV002051664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly592Glu
CA023577
NM_000527.5:c.1775G>A