ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825437208
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2747514
ClinVar RCV Id:
RCV003511639
RCV004011433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu1017Met
CA394285548
NM_001077183.3:c.3049C>A