ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828415494
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449584
ClinVar RCV Id:
RCV000519477
RCV002527581
RCV003159666
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Asn1687Asp
CA394314156
NM_001370404.1:c.5059A>G