Canonical Allele Identifier: PA2826216506
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251700
ClinVar RCV Id: RCV000237503
ClinVar Variation Id: 961072
ClinVar RCV Id: RCV001234707

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Lys266Asn
CA10585338
NM_001195803.2:c.798G>C
CA404083967
NM_001195803.2:c.798G>T