Canonical Allele Identifier: PA2826214048
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3075244
ClinVar RCV Id: RCV004015770

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg747Lys
CA404096834
NM_001195799.2:c.2240G>A