ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828060928
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411234
ClinVar RCV Id:
RCV001016721
RCV000467686
RCV004001896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Ala823Thr
CA034791
NM_001362177.1:c.2467G>A