ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827004686
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207755
ClinVar RCV Id:
RCV000475369
RCV000574084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ser1423Tyr
CA319534
NM_001318827.2:c.4268C>A