ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827005049
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
318334
ClinVar RCV Id:
RCV000371761
RCV001023201
RCV000839227
RCV001079540
RCV004537797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val1527Met
CA10648023
NM_001318827.2:c.4579G>A