ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828421069
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49956
ClinVar RCV Id:
RCV000043223
RCV002298454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Gly1536Ser
CA020963
NM_001370405.1:c.4606G>A