Canonical Allele Identifier: PA645376678
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251341
ClinVar RCV Id: RCV000237582
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp214_Arg215insHisProLeuSerTrp
CA10585031
NM_000527.5:c.643_644insATCCACTCAGCTGGC