Allele Registry

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Canonical Allele Identifier: PA2825179764

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321229

ClinVar RCV Id: RCV002227556 RCV002388665

ClinVar Variation Id: 2138225

ClinVar RCV Id: RCV003041352 RCV003318737

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Trp490Cys	CA404086245 NM_000527.5:c.1470G>C CA404086248 NM_000527.5:c.1470G>T