Canonical Allele Identifier: PA2826216390
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251648
ClinVar RCV Id: RCV000238048
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Glu230_Asp235dup
CA10585291
NM_001195803.2:c.688_705dup