ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825178296
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2682003
ClinVar RCV Id:
RCV003477295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Arg300Thr
CA404080998
NM_000527.5:c.899G>C