ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915987030
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411229
ClinVar RCV Id:
RCV000467445
RCV004022868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Pro366Ala
CA16612486
NM_001162426.2:c.1096C>G