Canonical Allele Identifier: PA2828059158
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517462
ClinVar RCV Id: RCV002041091
ClinVar Variation Id: 2739252
ClinVar RCV Id: RCV003506658

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.His105Gln
CA375371469
NM_001362177.1:c.315T>G
CA375371471
NM_001362177.1:c.315T>A