ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827002630
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467948
ClinVar RCV Id:
RCV000553299
RCV002431634
RCV004527646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ala800Gly
CA039285
NM_001318827.2:c.2399C>G