ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827016519
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
529750
ClinVar RCV:
RCV001023842
RCV001513329
RCV004004052
ClinVar Variation:
536110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala1515Val
CA054932
NM_001318831.2:c.4544C>T