ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828411399
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207659
ClinVar RCV Id:
RCV000189889
RCV000564968
RCV000557687
RCV000768351
RCV001200210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ser526Thr
CA031106
NM_001370404.1:c.1577G>C