ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828061129
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000457246
RCV002446833
RCV004001893
ClinVar Variation:
411225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Pro902Ser
CA035733
NM_001362177.1:c.2704C>T