ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658655319
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441225
ClinVar RCV Id:
RCV000509512
RCV001805127
RCV002420291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Pro661Thr
CA404093324
NM_000527.5:c.1981C>A