ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829982351
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055523
RCV000413607
RCV001854154
ClinVar Variation:
65301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Thr1580Ile
CA021153
NM_021055.3:c.4739C>T