ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827019986
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535928
ClinVar RCV Id:
RCV000644158
RCV002331189
RCV004004004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Thr1429Ile
CA051214
NM_001318832.2:c.4286C>T