Allele Registry

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Canonical Allele Identifier: PA658804327

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 523724

ClinVar RCV Id: RCV000627178 RCV001376812

ClinVar Variation Id: 689346

ClinVar RCV Id: RCV000850042

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Glu228Asp	CA404079085 NM_000527.5:c.684G>C CA404079087 NM_000527.5:c.684G>T