ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825437799
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265989
ClinVar RCV Id:
RCV000256373
RCV003469206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ser1188Phe
CA10588935
NM_001077183.3:c.3563C>T