ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827014329
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49247
ClinVar RCV Id:
RCV000042506
RCV002513616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Thr827Arg
CA018689
NM_001318831.2:c.2480C>G