Canonical Allele Identifier: PA2828060758
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411270

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asp751His
CA16612739
NM_001362177.1:c.2251G>C