ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828415255
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055068
RCV000469641
RCV000563588
RCV001551734
ClinVar Variation:
64868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Val1629Ile
CA021497
NM_001370404.1:c.4885G>A