ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827017883
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1780872
ClinVar RCV Id:
RCV002410465
RCV003100868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ile621Leu
CA394273001
NM_001318832.2:c.1861A>C