ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825577479
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49352
ClinVar RCV Id:
RCV000042612
RCV000190040
RCV001797601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Leu1694Pro
CA021894
NM_001114382.3:c.5081T>C