ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499240257
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1020867
ClinVar RCV Id:
RCV001320524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Tyr312Cys
CA375368721
NM_001162426.2:c.935A>G