Canonical Allele Identifier: PA2826212514
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251390
ClinVar RCV Id: RCV000237995
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp186del
CA10585078
NM_001195799.2:c.558_560del
CA2573050582
NM_001195799.2:c.556_558delinsACGGTATGGACTGCA