ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827014995
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486606
ClinVar RCV Id:
RCV000561137
RCV000685152
RCV004001147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser1102Leu
CA050248
NM_001318831.2:c.3305C>T