ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827007784
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141526
ClinVar RCV Id:
RCV000130092
RCV000530366
RCV004528853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ala704Thr
CA017108
NM_001318829.2:c.2110G>A