ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827010179
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406102
ClinVar RCV Id:
RCV000466909
RCV001023422
RCV001538711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ile1557Val
CA053492
NM_001318829.2:c.4669A>G