ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA100398
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251516
ClinVar RCV Id:
RCV000237924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys302Trp
CA10585187
NM_000527.5:c.906C>G