Canonical Allele Identifier: PA2580170623
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_001182727.1:p.Phe629_Ser630delinsAspHisGlnPro
CA2017997787
NM_001195798.2:c.1885_1889delinsGATCATCAACC