ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825438846
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49479
ClinVar RCV Id:
RCV000042739
RCV000412893
RCV001036250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Tyr1482Cys
CA020809
NM_001077183.3:c.4445A>G