ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827007385
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406129
ClinVar RCV Id:
RCV000460911
RCV002256251
RCV004000726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg579Cys
CA034358
NM_001318829.2:c.1735C>T