Canonical Allele Identifier: PA916000662
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431535
ClinVar RCV Id: RCV000497106 RCV002230972
ClinVar Variation Id: 3069619
ClinVar RCV Id: RCV004008163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu600Asp
CA036707
NM_001195798.2:c.1800G>T
CA404089805
NM_001195798.2:c.1800G>C