ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827004129
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135386
ClinVar RCV Id:
RCV000122232
RCV000564577
RCV000644340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg1266Gln
CA019956
NM_001318827.2:c.3797G>A