ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829971656
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
516774
ClinVar RCV Id:
RCV000729897
RCV001024992
RCV001087306
RCV002469218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Val207Ile
CA055776
NM_021055.3:c.619G>A