ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828414518
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000458065
RCV001022436
RCV001529238
RCV004000720
ClinVar Variation:
406108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Arg1426Cys
CA051067
NM_001370404.1:c.4276C>T