ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826216756
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
992900
ClinVar RCV Id:
RCV001281670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Leu352Gln
CA404086021
NM_001195803.2:c.1055T>A