ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825179098
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1062644
ClinVar RCV Id:
RCV001372381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.His388Asp
CA404083848
NM_000527.5:c.1162C>G