ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825576640
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238051
ClinVar RCV Id:
RCV000227544
RCV000572080
RCV003153526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Glu1467Gly
CA051259
NM_001114382.3:c.4400A>G