ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825575293
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467994
ClinVar RCV Id:
RCV000525625
RCV004024048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val1067Leu
CA044723
NM_001114382.3:c.3199G>C