Canonical Allele Identifier: PA100519
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251686
ClinVar RCV Id: RCV000237805
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys379Tyr
CA10585325
NM_000527.5:c.1136G>A