ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023077
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_001305760.1:p.Pro914Ala
CA046994
NM_001318831.2:c.2740C>G