Canonical Allele Identifier: PA645379753
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252097
ClinVar RCV Id: RCV000237415 RCV001042592 RCV002411102 RCV003477856
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ile624del
CA10585667
NM_000527.5:c.1871_1873del