ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827020934
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406050
ClinVar RCV Id:
RCV000473435
RCV001023737
RCV001546269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro1681Leu
CA054450
NM_001318832.2:c.5042C>T