Canonical Allele Identifier: PA2828419609
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64875
ClinVar RCV Id: RCV000055075 RCV000644377 RCV002453368
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1118Val
CA019204
NM_001370405.1:c.3353C>T