ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828092200
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000234604
RCV000392158
RCV000574918
RCV001697576
RCV004532844
ClinVar Variation:
237987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Val766Met
CA038245
NM_001363528.2:c.2296G>A