ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139686102
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
921549
ClinVar RCV Id:
RCV001180999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gly758Glu
CA404095589
NM_001195798.2:c.2273G>A