Canonical Allele Identifier: PA2825208314
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1796834
ClinVar RCV Id: RCV002435365
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Trp4Arg;Trp6_Ala13delinsLeuGluIleAlaLeuAspArgArg]
CA2580096290
NM_000527.5:c.10_40delinsCGGGGGCTGGAAATTGCGCTGGACCGTCGCC