ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827008785
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406069
ClinVar RCV Id:
RCV000570432
RCV000461845
RCV001662421
RCV004000712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala1103Val
CA047499
NM_001318829.2:c.3308C>T