ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829979006
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390104
ClinVar RCV Id:
RCV000438616
RCV003766401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Pro1115Ala
CA046994
NM_021055.3:c.3343C>G