Canonical Allele Identifier: PA2826216872
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_001182732.1:p.Val396Met
CA023525
NM_001195803.2:c.1186G>A