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
ENSP00000496691.1:p.Met172Ile
CA375371518
ENST00000643072.1:c.516G>T
CA375371519
ENST00000643072.1:c.516G>C
CA375371522
ENST00000643072.1:c.516G>A