ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827002021
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784028
ClinVar RCV Id:
RCV002416965
RCV003100991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Pro628Leu
CA394274421
NM_001318827.2:c.1883C>T