ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827015173
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207682
ClinVar RCV Id:
RCV000189928
RCV001852522
RCV003298247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Asp1156Asn
CA319383
NM_001318831.2:c.3466G>A