ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827002044
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535899
ClinVar RCV Id:
RCV000644122
RCV001014079
RCV002499096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Gly634Asp
CA035599
NM_001318827.2:c.1901G>A