ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828419713
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207678
ClinVar RCV Id:
RCV000469044
RCV001020619
RCV001721231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Leu1146Val
CA319374
NM_001370405.1:c.3436C>G