ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212446
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1684853
ClinVar RCV Id:
RCV002247945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Arg174Leu
CA404078176
NM_001195799.2:c.521G>T