ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916023979
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000190005
RCV000644168
RCV002426918
ClinVar Variation:
207734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ile904Thr
CA319484
NM_001318832.2:c.2711T>C