ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828419291
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238015
ClinVar RCV Id:
RCV000226848
RCV001019293
RCV003480561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Val1030Met
CA044793
NM_001370405.1:c.3088G>A