ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827009786
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65305
ClinVar RCV Id:
RCV000055527
RCV002513724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asp1420Val
CA020759
NM_001318829.2:c.4259A>T