ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826214480
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251498
ClinVar RCV Id:
RCV000237605
RCV003456384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Lys126Glu
CA10585171
NM_001195800.2:c.376A>G