ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825434659
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055314
RCV000533936
RCV001553178
RCV002255276
ClinVar Variation:
65103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg208Trp
CA022695
NM_001077183.3:c.622C>T