ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828417984
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838446
ClinVar RCV Id:
RCV001039993
RCV002258095
RCV003328646
RCV003461450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Val645Phe
CA034596
NM_001370405.1:c.1933G>T