ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827003003
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207738
ClinVar RCV Id:
RCV000231299
RCV000561234
RCV001705073
RCV003996891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Thr916Ala
CA043628
NM_001318827.2:c.2746A>G