ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825180947
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1380712
ClinVar RCV Id:
RCV001886437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys711Arg
CA404093979
NM_000527.5:c.2131T>C