ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212975
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251681
ClinVar RCV Id:
RCV000237613
RCV002321916
RCV002518484
RCV003736671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys336Tyr
CA10585320
NM_001195799.2:c.1007G>A