ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645510885
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440674
ClinVar RCV Id:
RCV000508939
RCV001036739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Leu680Pro
CA404093609
NM_000527.5:c.2039T>C