ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829982463
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
194186
ClinVar RCV:
RCV000594599
RCV001852204
ClinVar Variation:
197025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.His1597Pro
CA021276
NM_021055.3:c.4790A>C