Canonical Allele Identifier: PA645434553
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405951
ClinVar RCV Id: RCV000574358 RCV000842193 RCV001085474 RCV004000676
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gly1472Ser
CA051085
NM_000548.5:c.4414G>A