ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645380278
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252215
ClinVar RCV Id:
RCV000237199
RCV001385152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys698Tyr
CA10585769
NM_000527.5:c.2093G>A