ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825954452
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000551227
RCV001578209
RCV002256369
RCV003999218
ClinVar Variation:
466122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Pro1057Thr
CA375367153
NM_001162426.2:c.3169C>A