Canonical Allele Identifier: PA2828420147
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65083
ClinVar RCV Id: RCV000055293 RCV000163902 RCV000189923 RCV000476957 RCV003153341 RCV003477459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1280Val
CA019767
NM_001370405.1:c.3839C>T