ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828418296
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237984
ClinVar RCV Id:
RCV000227175
RCV002429100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Ile723Phe
CA10583306
NM_001370405.1:c.2167A>T