Allele Registry

Canonical Allele Identifier: PA1139688024

Gene: TSC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Asp556Glu	CA375364340 NM_000368.5:c.1668C>G CA375364342 NM_000368.5:c.1668C>A