Canonical Allele Identifier: PA2826213666
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252081
ClinVar RCV Id: RCV000237571
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val577_Thr580del
CA10585653
NM_001195799.2:c.1730_1741del