ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580203475
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1915555
ClinVar RCV Id:
RCV002601573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala53Thr
CA394301705
NM_001318832.2:c.157G>A