Canonical Allele Identifier: PA2826213233
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251824
ClinVar RCV Id: RCV000238342 RCV001181608
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val421Ile
CA034098
NM_001195799.2:c.1261G>A