ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA235399
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183089
ClinVar RCV Id:
RCV000161959
RCV000237262
RCV001181335
RCV002345556
RCV004525832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Pro181Arg
CA023717
NM_000527.5:c.542C>G