ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825208615
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1321225
ClinVar RCV Id:
RCV002227552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Gly207Cys
CA404077900
NM_000527.5:c.619G>T