ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828414619
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49491
ClinVar RCV Id:
RCV000042751
RCV002326760
RCV003511986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Pro1453Arg
CA020517
NM_001370404.1:c.4358C>G