Allele Registry

Canonical Allele Identifier: PA2828414485

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000934634

RCV001022397

RCV001427433

ClinVar Variation:

207684

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Thr1418Ser	CA051006 NM_001370404.1:c.4253C>G CA394301849 NM_001370404.1:c.4252A>T