Canonical Allele Identifier: PA2580164365
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1745220
ClinVar RCV Id: RCV002335890
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp170del
CA2580096447
NM_001195798.2:c.508_510del