ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825438360
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535982
ClinVar RCV Id:
RCV000644231
RCV002331191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg1350Trp
CA050704
NM_001077183.3:c.4048C>T