Canonical Allele Identifier: PA189672
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49565
ClinVar RCV Id: RCV000042825 RCV000163970 RCV000122221 RCV000727358 RCV001086743 RCV004541223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1047Ala
CA018645
NM_000548.5:c.3140T>C