Canonical Allele Identifier: PA2826212996
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251690
ClinVar RCV Id: RCV000238245 RCV003581616
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gln343Pro
CA10585328
NM_001195799.2:c.1028A>C