Canonical Allele Identifier: PA2826216580
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251748
ClinVar RCV Id: RCV000238192 RCV001174782
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp288His
CA10585371
NM_001195803.2:c.862G>C