Canonical Allele Identifier: PA915998356
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440572
ClinVar RCV Id: RCV000508823 RCV001805125 RCV003328591
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro144Leu
CA305296798
NM_001195798.2:c.431C>T