ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825577600
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405943
ClinVar RCV Id:
RCV000595657
RCV000768353
RCV001085143
RCV001023772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Arg1722Cys
CA054522
NM_001114382.3:c.5164C>T