ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827007723
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50119
ClinVar RCV Id:
RCV000043386
RCV002273946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu684Pro
CA016906
NM_001318829.2:c.2051T>C