ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827010489
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406083
ClinVar RCV Id:
RCV000457700
RCV001023824
RCV003463867
RCV004000717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Glu1642Lys
CA16615048
NM_001318829.2:c.4924G>A