Allele Registry

Canonical Allele Identifier: PA915987448

Gene: TSC1 HGNC NCBI

ClinVar Allele:

396749

ClinVar RCV:

RCV000457246

RCV002446833

RCV004001893

ClinVar Variation:

411225

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Pro972Ser	CA035733 NM_001162427.2:c.2914C>T