Canonical Allele Identifier: PA915998646
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251325
ClinVar RCV Id: RCV000237606
ClinVar Variation Id: 869389
ClinVar RCV Id: RCV001249595
ClinVar Variation Id: 1321224
ClinVar RCV Id: RCV002227551

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser206Arg
CA10585015
NM_001195798.2:c.618T>G
CA404077844
NM_001195798.2:c.616A>C
CA404077879
NM_001195798.2:c.618T>A