ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829982039
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49317
ClinVar RCV Id:
RCV000042577
RCV000545050
RCV001022958
RCV001697037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Thr1533Met
CA020954
NM_021055.3:c.4598C>T