ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825577601
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372688
ClinVar RCV Id:
RCV001023775
RCV000689057
RCV001705542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Arg1722His
CA054529
NM_001114382.3:c.5165G>A