ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212153
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
996231
ClinVar RCV Id:
RCV001290542
RCV002227267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp47Tyr
CA404074852
NM_001195799.2:c.139G>T