ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829981782
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2626432
ClinVar RCV Id:
RCV003382412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1503Val
CA394304934
NM_021055.3:c.4508C>T