ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826214448
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1763461
ClinVar RCV Id:
RCV002447556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Phe114Tyr
CA404080620
NM_001195800.2:c.341T>A