Canonical Allele Identifier: PA2826216489
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1677867
ClinVar RCV Id: RCV002223548 RCV003093880
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.His261_Ala264del
CA2573050596
NM_001195803.2:c.781_792del