ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827014327
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428000
ClinVar RCV Id:
RCV000491778
RCV000542621
RCV001577170
RCV004003437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr826Met
CA044749
NM_001318831.2:c.2477C>T