ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827015368
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535870
ClinVar RCV Id:
RCV000644088
RCV002483857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg1213Trp
CA051001
NM_001318831.2:c.3637C>T