Canonical Allele Identifier: PA916001786
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251043
ClinVar RCV Id: RCV000238185
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Glu58Lys
CA10584773
NM_001195803.2:c.172G>A