Canonical Allele Identifier: PA645380608
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252287
ClinVar RCV Id: RCV000237424
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp774_Asn780del
CA10585827
NM_000527.5:c.2322_2342del