Canonical Allele Identifier: PA2826217175
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252102
ClinVar RCV Id: RCV000237121 RCV001854907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala500Val
CA10585672
NM_001195803.2:c.1499C>T