ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825438367
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486632
ClinVar RCV Id:
RCV000568648
RCV000644236
RCV001558891
RCV002476253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Gln1352Arg
CA050713
NM_001077183.3:c.4055A>G