ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828413622
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50148
ClinVar RCV Id:
RCV000043416
RCV000201026
RCV000414012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Gly1160Glu
CA019384
NM_001370404.1:c.3479G>A