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
ENSP00000495598.2:p.Met318Ile
CA375368687
ENST00000643275.2:c.954G>T
CA375368688
ENST00000643275.2:c.954G>C
CA375368689
ENST00000643275.2:c.954G>A