ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645378591
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251831
ClinVar RCV Id:
RCV000237338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ile473_Asp477del
CA10585443
NM_000527.5:c.1417_1431del