Canonical Allele Identifier: PA2826212473
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375788
ClinVar RCV Id: RCV000417271
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys181_Asp186del
CA16602305
NM_001195799.2:c.541_558del