Canonical Allele Identifier: PA2580164536
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2180088
ClinVar RCV Id: RCV002599470

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg449Ile
CA404085336
NM_001195798.2:c.1346G>T