This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: TSC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496398.1:p.Tyr224_Lys346del
CA008254
ENST00000643362.1:c.672T>G
CA375369365
ENST00000643362.1:c.672T>A