ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827014596
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1733615
ClinVar RCV Id:
RCV002452497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Pro974His
CA394291998
NM_001318831.2:c.2921C>A