Canonical Allele Identifier: PA2826217464
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36462
ClinVar RCV Id: RCV000030135 RCV000058923 RCV000855648 RCV001079897 RCV002051648 RCV002453272
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val649Ile
CA023677
NM_001195803.2:c.1945G>A