ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827009770
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1741666
ClinVar RCV Id:
RCV002342233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1414Gly
CA394304450
NM_001318829.2:c.4240C>G