Canonical Allele Identifier: PA2828419403
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535906
ClinVar RCV Id: RCV000644133 RCV001019823 RCV001756075 RCV003459536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val1059Met
CA045672
NM_001370405.1:c.3175G>A