ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827006464
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
50189
ClinVar RCV:
RCV000034667
RCV001084556
RCV002257374
RCV003996175
ClinVar Variation:
41750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg259Gly
CA023120
NM_001318829.2:c.775C>G