ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825434150
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
864308
ClinVar RCV Id:
RCV001071459
RCV001811642
RCV003293865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Glu43Lys
CA394301730
NM_001077183.3:c.127G>A