Canonical Allele Identifier: PA2827010832
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238061
ClinVar RCV Id: RCV000415747 RCV000570208 RCV001088185 RCV003998833 RCV004532853
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val1484Met
CA052464
NM_001318829.2:c.4450G>A