Canonical Allele Identifier: PA2826212358
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920365
ClinVar RCV Id: RCV001179045
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg142Cys
CA305296860
NM_001195799.2:c.424C>T