Canonical Allele Identifier: PA2826216070
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321227
ClinVar RCV Id: RCV002227554

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys128Phe
CA404079874
NM_001195803.2:c.383G>T