Canonical Allele Identifier: PA2826217011
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2501086
ClinVar RCV Id: RCV003226683

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg447Pro
CA404089674
NM_001195803.2:c.1340G>C