ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023282
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135378
ClinVar RCV Id:
RCV000122219
RCV000810100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Val210Leu
CA022614
NM_001318832.2:c.628G>C