ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825178996
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1727785
ClinVar RCV Id:
RCV002326125
RCV003581819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys377Arg
CA032183
NM_000527.5:c.1129T>C