ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828413547
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135380
ClinVar RCV Id:
RCV000122224
RCV000820253
RCV001020564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Thr1137Met
CA019264
NM_001370404.1:c.3410C>T