Canonical Allele Identifier: PA2826216877
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183119
ClinVar RCV Id: RCV000161993 RCV000237418
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val397Met
CA023529
NM_001195803.2:c.1189G>A