ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915998857
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251396
ClinVar RCV Id:
RCV000238043
RCV001246502
RCV002365243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys231Arg
CA10585083
NM_001195798.2:c.691T>C