ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA263013
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49921
ClinVar RCV Id:
RCV000043188
RCV000523170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu264Pro
CA022990
NM_000548.5:c.791T>C