ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828421336
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238071
ClinVar RCV Id:
RCV000228578
RCV000761036
RCV001023346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Phe1614Tyr
CA10583340
NM_001370405.1:c.4841T>A