Canonical Allele Identifier: PA2826213225
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2843694
ClinVar RCV Id: RCV003742085
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg417_Gly420delinsSer
CA915952546
NM_001195799.2:c.1251_1259del