Canonical Allele Identifier: PA2826213933
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252243
ClinVar RCV Id: RCV000238066

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val678Leu
CA10585794
NM_001195799.2:c.2032G>C
CA404094785
NM_001195799.2:c.2032G>T