ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915999511
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251651
ClinVar RCV Id:
RCV000238289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Glu357Gly
CA031903
NM_001195798.2:c.1070A>G