Canonical Allele Identifier: PA916001442
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251164
ClinVar RCV Id: RCV000238323

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys75_His76delinsTyr
CA10584864
NM_001195799.2:c.224_226del