ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA319354
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207663
ClinVar RCV Id:
RCV000644256
RCV001012959
RCV001705065
RCV003996865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr584Met
CA033300
NM_000548.5:c.1751C>T