Canonical Allele Identifier: PA2826213394
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3696
ClinVar RCV Id: RCV000003884 RCV000161992 RCV000587718 RCV000825622 RCV002399309
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val482Met
CA023525
NM_001195799.2:c.1444G>A