Canonical Allele Identifier: PA645380341
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252226
ClinVar RCV Id: RCV000238580
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp707Tyr
CA10585779
NM_000527.5:c.2119G>T