Canonical Allele Identifier: PA915998763
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251376
ClinVar RCV Id: RCV000237604
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp224_Asp227dup
CA10585066
NM_001195798.2:c.672_683dup