ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825436182
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237977
ClinVar RCV Id:
RCV000226719
RCV001014169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu681Gln
CA10583301
NM_001077183.3:c.2042T>A