Canonical Allele Identifier: PA2825180510
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2138230
ClinVar RCV Id: RCV003041354
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Phe629_Ser630delinsAspHisGlnPro
CA2017997787
NM_000527.5:c.1885_1889delinsGATCATCAACC