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
ENSP00000496772.1:p.Met730Ile
CA375360544
ENST00000642627.1:c.2190G>T
CA375360546
ENST00000642627.1:c.2190G>C
CA375360548
ENST00000642627.1:c.2190G>A