ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827003684
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1392807
ClinVar RCV Id:
RCV001912404
RCV002458744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ser1140Phe
CA394292073
NM_001318827.2:c.3419C>T