Canonical Allele Identifier: PA915999723
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251700
ClinVar RCV Id: RCV000237503
ClinVar Variation Id: 961072
ClinVar RCV Id: RCV001234707
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys393Asn
CA10585338
NM_001195798.2:c.1179G>C
CA404083967
NM_001195798.2:c.1179G>T