Canonical Allele Identifier: PA2826217003
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2971852
ClinVar RCV Id: RCV003832914

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu444del
CA036098
NM_001195803.2:c.1330_1332del