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
ENSP00000494685.1:p.Met224Ile
CA375371500
ENST00000643583.1:c.672G>T
CA375371502
ENST00000643583.1:c.672G>C
CA375371505
ENST00000643583.1:c.672G>A