ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827001743
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055558
RCV001824119
ClinVar Variation:
65334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.His560Tyr
CA015730
NM_001318827.2:c.1678C>T