ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825208354
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1685923
ClinVar RCV Id:
RCV002250090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp36Tyr
CA404074706
NM_000527.5:c.106G>T