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
ENSP00000496398.2:p.Asn730Lys
CA375370030
ENST00000643362.2:c.2190C>A
CA375370031
ENST00000643362.2:c.2190C>G