Canonical Allele Identifier: PA2826211553
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 869388
ClinVar RCV Id: RCV001249594
ClinVar Variation Id: 1737013
ClinVar RCV Id: RCV002357847
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys134Ser
CA404076356
NM_001195798.2:c.400T>A
CA404076358
NM_001195798.2:c.401G>C