Canonical Allele Identifier: PA2826213494
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251967
ClinVar RCV Id: RCV000237781 RCV001753713 RCV001854905
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp521dup
CA10585558
NM_001195799.2:c.1561_1563dup