ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825575717
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468021
ClinVar RCV Id:
RCV000527232
RCV000764028
RCV002225656
RCV000567911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Ala1184Val
CA394289510
NM_001114382.3:c.3551C>T