ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828415047
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838362
ClinVar RCV Id:
RCV001039897
RCV003393797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Met1571Arg
CA394308151
NM_001370404.1:c.4712T>G