Allele Registry

Canonical Allele Identifier: PA2828060259

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000545216

RCV001013813

RCV003419955

RCV003999201

ClinVar Variation:

466054

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Ala538Thr	CA200888114 NM_001362177.1:c.1612G>A