ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825576664
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_001107854.1:p.Pro1474Arg
CA020517
NM_001114382.3:c.4421C>G