Canonical Allele Identifier: PA645376771
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_000518.1:p.Cys222_Asp227del
CA16602305
NM_000527.5:c.664_681del