Canonical Allele Identifier: PA2826216112
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2740380
ClinVar RCV Id: RCV003581547

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly142_Val144del
CA2697556240
NM_001195803.2:c.424_432del