Canonical Allele Identifier: PA645375494
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251079
ClinVar RCV Id: RCV000237232 RCV000775026 RCV001582800 RCV002429164
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys75Ser
CA10584795
NM_000527.5:c.223T>A
CA404075570
NM_000527.5:c.224G>C