ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827000804
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468193
ClinVar RCV Id:
RCV000541726
RCV002377105
RCV003999344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val282Met
CA394315689
NM_001318827.2:c.844G>A