Canonical Allele Identifier: PA2826212315
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251271
ClinVar RCV Id: RCV000238094 RCV002338786
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp131Glu
CA10584961
NM_001195799.2:c.393C>G
CA404076945
NM_001195799.2:c.393C>A