ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825574684
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237994
ClinVar RCV Id:
RCV000227059
RCV000277301
RCV002450674
RCV004532846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Val841Ile
CA10583310
NM_001114382.3:c.2521G>A