Canonical Allele Identifier: PA645432493
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230946
ClinVar RCV Id: RCV000215219 RCV000458155 RCV001119143 RCV003153501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val789Ile
CA038777
NM_000548.5:c.2365G>A