ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826215150
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251893
ClinVar RCV Id:
RCV000237117
RCV001699251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Ser349Pro
CA10585497
NM_001195800.2:c.1045T>C