Canonical Allele Identifier: PA915998588
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251293
ClinVar RCV Id: RCV000238405
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys184Trp
CA10584985
NM_001195798.2:c.552T>G