Canonical Allele Identifier: PA915999853
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251747
ClinVar RCV Id: RCV000238583 RCV000775061 RCV003477854 RCV004020961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu414Arg
CA033186
NM_001195798.2:c.1241T>G