ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023809
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
27437
ClinVar RCV:
RCV000013207
RCV000042452
ClinVar Variation:
12398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu728Arg
CA016832
NM_001318832.2:c.2183T>G