Canonical Allele Identifier: PA2828061351
Gene: TSC1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.His1018Gln
CA036855
NM_001362177.1:c.3054C>A
CA375366415
NM_001362177.1:c.3054C>G