Canonical Allele Identifier: PA645375785
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251164
ClinVar RCV Id: RCV000238323

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys116_His117delinsTyr
CA10584864
NM_000527.5:c.347_349del