ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658804887
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535892
ClinVar RCV Id:
RCV000644114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr147Lys
CA394308347
NM_000548.5:c.440C>A