Canonical Allele Identifier: PA915998615
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251309
ClinVar RCV Id: RCV000238173 RCV001068108 RCV002356330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys197Phe
CA044039
NM_001195798.2:c.590G>T