ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828421212
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536102
ClinVar RCV Id:
RCV000644406
RCV001023169
RCV004004050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ala1579Thr
CA052965
NM_001370405.1:c.4735G>A