Canonical Allele Identifier: PA2828059358
Gene: TSC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Gln180His
CA039389
NM_001362177.1:c.540G>C
CA375369013
NM_001362177.1:c.540G>T