Canonical Allele Identifier: PA645378307
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251750
ClinVar RCV Id: RCV000237518
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp415Val
CA10585373
NM_000527.5:c.1244A>T