Canonical Allele Identifier: PA1139686065
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 918460
ClinVar RCV Id: RCV001176057 RCV004000317
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro747Thr
CA404095231
NM_001195798.2:c.2239C>A