Canonical Allele Identifier: PA2826212544
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441192
ClinVar RCV Id: RCV000509412 RCV001857296
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys195Ser
CA404079433
NM_001195799.2:c.583T>A
CA404079439
NM_001195799.2:c.584G>C