ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573168517
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1431901
ClinVar RCV Id:
RCV001959735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Pro1140Ser
CA375366412
NM_000368.5:c.3418C>T