Canonical Allele Identifier: PA916000917
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375827
ClinVar RCV Id: RCV000417270
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro661Leu
CA16602341
NM_001195798.2:c.1982C>T