Canonical Allele Identifier: PA2826214090
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630379
ClinVar RCV Id: RCV000775619 RCV004001458
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val765Phe
CA040732
NM_001195799.2:c.2293G>T