ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916001178
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252269
ClinVar RCV Id:
RCV000237943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Thr766Ile
CA10585816
NM_001195798.2:c.2297C>T