Canonical Allele Identifier: PA915998840
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251392
ClinVar RCV Id: RCV000238113

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu228delinsCysLys
CA10585080
NM_001195798.2:c.682delinsTGCA