Allele Registry

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Canonical Allele Identifier: PA645380333

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 328053

ClinVar RCV Id: RCV000352480 RCV000775088 RCV000712213 RCV003330641

ClinVar Variation Id: 2057364

ClinVar RCV Id: RCV002923322

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Met702Ile	CA038604 NM_000527.5:c.2106G>A CA038621 NM_000527.5:c.2106G>C CA404093934 NM_000527.5:c.2106G>T