Canonical Allele Identifier: PA2828413077
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_001357333.1:p.Val1003Ala
CA018645
NM_001370404.1:c.3008T>C