Canonical Allele Identifier: PA645379560
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252039
ClinVar RCV Id: RCV000238532
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp601Tyr
CA10585620
NM_000527.5:c.1801G>T