ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212953
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369848
ClinVar RCV Id:
RCV000408876
RCV002230212
RCV002275000
RCV002429335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys327Arg
CA10654849
NM_001195799.2:c.979T>C