ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023287
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187388
ClinVar RCV Id:
RCV000167112
RCV000233190
RCV001721086
RCV003995559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala221Val
CA022710
NM_001318832.2:c.662C>T