ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915999348
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161282
ClinVar RCV Id:
RCV000238216
RCV001181337
RCV002051675
RCV003477564
RCV003372619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gly323Ser
CA023798
NM_001195798.2:c.967G>A