ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825918982
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534452
ClinVar RCV Id:
RCV000642018
RCV002424445
RCV004003960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Arg907Gln
CA034413
NM_001162426.2:c.2720G>A