ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023943
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50077
ClinVar RCV Id:
RCV000043343
RCV000491444
RCV001852902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu861Pro
CA017661
NM_001318832.2:c.2582T>C