Canonical Allele Identifier: PA2826214775
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251689
ClinVar RCV Id: RCV000237675
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gln216_Asp218del
CA10585329
NM_001195800.2:c.647_655del