ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827016449
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49962
ClinVar RCV Id:
RCV000043229
RCV003311673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Leu1500Pro
CA022245
NM_001318831.2:c.4499T>C