ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645377051
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251425
ClinVar RCV Id:
RCV000238428
RCV000802806
RCV001264593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys243Arg
CA10585105
NM_000527.5:c.727T>C