Canonical Allele Identifier: PA2826215420
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430788
ClinVar RCV Id: RCV000495870

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser442_Val445dup
CA645373244
NM_001195800.2:c.1325_1336dup