ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829974267
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467896
ClinVar RCV Id:
RCV000536893
RCV002404479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.His600Tyr
CA033559
NM_021055.3:c.1798C>T