Canonical Allele Identifier: PA2826212572
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375799
ClinVar RCV Id: RCV000417281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys207Ser
CA16602314
NM_001195799.2:c.620G>C
CA404079700
NM_001195799.2:c.619T>A