Allele Registry

Canonical Allele Identifier: PA658659731

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459043

ClinVar RCV:

RCV000567937

RCV000988275

ClinVar Variation:

466072

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Tyr761His	CA032032 NM_000368.5:c.2281T>C