ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827010203
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207758
ClinVar RCV Id:
RCV000190039
RCV001084596
RCV002336507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Cys1565Tyr
CA053573
NM_001318829.2:c.4694G>A