ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827021056
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486634
ClinVar RCV Id:
RCV000569459
RCV000702221
RCV001532311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1710Ser
CA054989
NM_001318832.2:c.5128C>T