ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825955411
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1421617
ClinVar RCV Id:
RCV001917009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Thr257Ala
CA375368747
NM_001162427.2:c.769A>G