ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828090065
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_001350457.1:p.Thr147Lys
CA394308347
NM_001363528.2:c.440C>A