Canonical Allele Identifier: PA645380079
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252156
ClinVar RCV Id: RCV000237822 RCV002519852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val664Met
CA10585715
NM_000527.5:c.1990G>A