ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828415705
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514715
ClinVar RCV Id:
RCV000604792
RCV000644420
RCV002258972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Gln1735Arg
CA055149
NM_001370404.1:c.5204A>G