ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825180974
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047002
ClinVar RCV Id:
RCV001351643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Thr721Ala
CA404094808
NM_000527.5:c.2161A>G