ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915999768
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251736
ClinVar RCV Id:
RCV000237211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Thr404Ile
CA10585360
NM_001195798.2:c.1211C>T