ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827011920
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189974
RCV000754678
RCV000812345
RCV002257481
RCV003462292
RCV003996880
ClinVar Variation:
207710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Leu161Val
CA319427
NM_001318831.2:c.481C>G