ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827010740
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535937
ClinVar RCV Id:
RCV000644170
RCV001022839
RCV004004007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Tyr106Cys
CA052014
NM_001318829.2:c.317A>G