Canonical Allele Identifier: PA915999512
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251649
ClinVar RCV Id: RCV000237189 RCV000775054 RCV001699265 RCV002411084 RCV004017551
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu357Lys
CA10585290
NM_001195798.2:c.1069G>A