ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825178442
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2773506
ClinVar RCV Id:
RCV003582105
RCV004011482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ile310Phe
CA030202
NM_000527.5:c.928A>T