ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827004692
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848503
ClinVar RCV Id:
RCV001052273
RCV002339262
RCV003156307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Glu1425Gln
CA394304419
NM_001318827.2:c.4273G>C