Canonical Allele Identifier: PA2826216529
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226350
ClinVar RCV Id: RCV000211653 RCV001249013 RCV002336590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala272Asp
CA10576301
NM_001195803.2:c.815C>A