Canonical Allele Identifier: PA2826214692
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251648
ClinVar RCV Id: RCV000238048
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Glu189_Asp194dup
CA10585291
NM_001195800.2:c.565_582dup