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
ENSP00000394524.2:p.His240Gln
CA038590
ENST00000440111.6:c.720T>G
CA375371265
ENST00000440111.6:c.720T>A