ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825576900
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49794
ClinVar RCV Id:
RCV000043059
RCV001054560
RCV001200217
RCV003162358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Glu1535Lys
CA020888
NM_001114382.3:c.4603G>A