Canonical Allele Identifier: PA916023242
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49319
ClinVar RCV Id: RCV000042579 RCV000518124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Leu171Val
CA021005
NM_001318832.2:c.511C>G