Canonical Allele Identifier: PA645378094
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251671
ClinVar RCV Id: RCV000237837
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu372_Tyr375delinsAlaLeuAsn
CA10585310
NM_000527.5:c.1115_1123delinsCACTGA