ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827017244
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318307
ClinVar RCV Id:
RCV000465522
RCV002379195
RCV000405414
RCV000433208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ile258Val
CA056277
NM_001318832.2:c.772A>G