ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658681115
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452681
ClinVar RCV Id:
RCV000521160
RCV000644179
RCV004023617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Pro1267Ser
CA048474
NM_000548.5:c.3799C>T