ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827009772
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536044
ClinVar RCV Id:
RCV000644320
RCV002334136
RCV004004037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1414Trp
CA276754888
NM_001318829.2:c.4240C>T