ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915987416
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000525091
RCV002316554
RCV003476284
RCV003999215
ClinVar Variation:
466111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Asn957Ser
CA375367854
NM_001162427.2:c.2870A>G