ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828420755
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49490
ClinVar RCV Id:
RCV000042750
RCV001852889
RCV003441731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Pro1454Thr
CA020509
NM_001370405.1:c.4360C>A