ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828415659
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486631
ClinVar RCV Id:
RCV000563385
RCV000644196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.His1725Tyr
CA394315380
NM_001370404.1:c.5173C>T