ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645434395
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406124
ClinVar RCV Id:
RCV000465620
RCV001022340
RCV001568800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1451Cys
CA050953
NM_000548.5:c.4351C>T