ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825956493
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207610
ClinVar RCV Id:
RCV001079404
RCV001013102
RCV000726144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Thr591Met
CA029749
NM_001162426.2:c.1772C>T