Canonical Allele Identifier: PA2825156181
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 655206
ClinVar RCV Id: RCV000811337

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser331Arg
CA375368582
NM_000368.5:c.993T>A
CA375368584
NM_000368.5:c.993T>G
CA375368596
NM_000368.5:c.991A>C