ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825439529
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238078
ClinVar RCV Id:
RCV000226974
RCV000564490
RCV001675679
RCV003998837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1670Ser
CA054437
NM_001077183.3:c.5008C>T