Canonical Allele Identifier: PA645379845
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252102
ClinVar RCV Id: RCV000237121 RCV001854907
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala627Val
CA10585672
NM_000527.5:c.1880C>T