ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827008177
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207783
ClinVar RCV Id:
RCV000231440
RCV001016356
RCV003884383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg852Cys
CA319592
NM_001318829.2:c.2554C>T