ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827014320
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1010404
ClinVar RCV Id:
RCV001308024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr824Asn
CA394285777
NM_001318831.2:c.2471C>A