ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825576806
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65219
ClinVar RCV Id:
RCV000055439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Asp1512Ala
CA020755
NM_001114382.3:c.4535A>C