ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827016559
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_001305760.1:p.His1525Tyr
CA394315380
NM_001318831.2:c.4573C>T