Allele Registry

Canonical Allele Identifier: PA162582

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000122197

RCV000534056

RCV002321604

ClinVar Variation:

135369

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Gly1057Ser	CA007215 NM_000368.5:c.3169G>A