Canonical Allele Identifier: PA2826212323
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 689345
ClinVar RCV Id: RCV000850041
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys132Ser
CA404076950
NM_001195799.2:c.394T>A
CA404076968
NM_001195799.2:c.395G>C