ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828415288
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207758
ClinVar RCV Id:
RCV000190039
RCV001084596
RCV002336507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Cys1636Tyr
CA053573
NM_001370404.1:c.4907G>A