Canonical Allele Identifier: PA2826211484
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251164
ClinVar RCV Id: RCV000238323
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys116_His117delinsTyr
CA10584864
NM_001195798.2:c.347_349del