Canonical Allele Identifier: PA645378308
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_000518.1:p.Asp415His
CA10585371
NM_000527.5:c.1243G>C