Canonical Allele Identifier: PA2826217178
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_001182732.1:p.Phe502_Ser503delinsAspHisGlnPro
CA2017997787
NM_001195803.2:c.1504_1508delinsGATCATCAACC