ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825573416
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406025
ClinVar RCV Id:
RCV000477110
RCV001011767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ser491Leu
CA030754
NM_001114382.3:c.1472C>T