ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829979047
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64875
ClinVar RCV Id:
RCV000055075
RCV000644377
RCV002453368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1118Val
CA019204
NM_021055.3:c.3353C>T