ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828415684
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468157
ClinVar RCV Id:
RCV000535476
RCV001821554
RCV002350300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ser1730Gly
CA055089
NM_001370404.1:c.5188A>G