Canonical Allele Identifier: PA645378398
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251772
ClinVar RCV Id: RCV000237834
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp433Tyr
CA10585391
NM_000527.5:c.1297G>T