ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828419787
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535985
ClinVar RCV Id:
RCV000644234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Glu1170Val
CA394291819
NM_001370405.1:c.3509A>T