Canonical Allele Identifier: PA2826214268
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2105825
ClinVar RCV Id: RCV003023650

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val45Ile
CA404074822
NM_001195800.2:c.133G>A