Canonical Allele Identifier: PA2826217306
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430796
ClinVar RCV Id: RCV000495912 RCV002231632
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg566_Pro567dup
CA645373245
NM_001195803.2:c.1695_1700dup