ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645377955
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251622
ClinVar RCV Id:
RCV000237561
RCV000586287
RCV002401933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys352Trp
CA10585271
NM_000527.5:c.1056C>G