Canonical Allele Identifier: PA2826212961
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_001182728.1:p.Glu331_Tyr334delinsAlaLeuAsn
CA10585310
NM_001195799.2:c.992_1000delinsCACTGA