ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825437368
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486673
ClinVar RCV Id:
RCV000562552
RCV001853809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Lys1062Met
CA045694
NM_001077183.3:c.3185A>T