ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825573515
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64992
ClinVar RCV Id:
RCV000055196
RCV000547543
RCV003298099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.His522Tyr
CA015081
NM_001114382.3:c.1564C>T