ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827008144
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65074
ClinVar RCV Id:
RCV000055281
RCV001853092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala840Pro
CA017834
NM_001318829.2:c.2518G>C