Canonical Allele Identifier: PA2826217052
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1334395
ClinVar RCV Id: RCV001813909

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ser459Pro
CA404089725
NM_001195803.2:c.1375T>C