Canonical Allele Identifier: PA2825158004
Gene: TSC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser1039Arg
CA375367365
NM_000368.5:c.3117C>G
CA375367366
NM_000368.5:c.3117C>A
CA375367380
NM_000368.5:c.3115A>C