Canonical Allele Identifier: PA2573186340
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1380712
ClinVar RCV Id: RCV001886437

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys711Arg
CA404093979
NM_001195798.2:c.2131T>C